Details of Disease

General Information of Disease (ID: DISCGPY8)

• Disease Name: Retinitis pigmentosa
• Synonyms: Rod-cone dystrophy; pericentral pigmentary retinopathy; retinitis pigmentosa
• Disease Class: 9B70: Inherited retinal dystrophy
• Definition: Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.
• Disease Hierarchy:
  DISGGL77: Inherited retinal dystrophy
  DIS1BLHT: Inborn disorder of amino acid transport
  DISCGPY8: Retinitis pigmentosa
• ICD Code:
  ICD-11: ICD-11: 9B70
  ICD-10: ICD-10: H35.5
  Expand ICD-11: '9B70
  Expand ICD-10: 'H35.5
• Disease Identifiers:
  MONDO ID: MONDO_0019200
  MESH ID: D012174
  UMLS CUI: C0035334
  OMIM ID: 268000
  MedGen ID: 20551
  Orphanet ID: 791
  SNOMED CT ID: 28835009

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Unoprostone	DMXNR04	Approved	Small molecular drug	[1]

This Disease is Treated as An Indication in 20 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
SPK-RPE65	DMXTZYM	Phase 3	NA	[2]
BIIB-088	DMUSJ3D	Phase 2/3	Gene therapy	[3]
NT-501	DM4H78P	Phase 2/3	NA	[2]
QLT-091001	DMZI4OV	Phase 2/3	NA	[2]
QR-421a	DMGGJAR	Phase 2/3	Antisense oligonucleotide	[4]
JCell	DMC6VKY	Phase 2	Cell therapy	[5]
MCO-010	DM9AYNN	Phase 2	Gene therapy	[6]
PRO-001	DM5ZTE4	Phase 2	NA	[7]
AAV-RPGR	DM7TF49	Phase 1/2	Gene therapy	[8]
AGTC-501	DMTS51C	Phase 1/2	Gene therapy	[9]
CNTO-2476	DM5D11V	Phase 1/2	NA	[10]
CPK850	DMQMCFJ	Phase 1/2	Gene therapy	[11]
GS030	DMU5OLF	Phase 1/2	Gene therapy	[12]
Human retinal progenitor cells	DMDS3CO	Phase 1/2	NA	[2]
QR1123	DMIRCF1	Phase 1/2	Antisense oligonucleotide	[13]
ReN-003	DMAX4C1	Phase 1/2	NA	[14]
RST100	DMUQIAN	Phase 1/2	NA	[2]
StarGen	DMX3CNS	Phase 1/2	NA	[15]
UshStat	DMI0H3B	Phase 1/2	NA	[2]
DWP-10292	DMAYIJI	Phase 1	NA	[16]

This Disease is Treated as An Indication in 6 Investigative Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Autosomal dominant retinitis pigmentosa	DM3B1WS	Investigative	NA	[17]
BIK-381	DMIJ20A	Investigative	NA	[17]
EOS-013	DM3FHMJ	Investigative	NA	[17]
GT-038	DMVIX7F	Investigative	NA	[17]
PRO-015	DMXNJEE	Investigative	NA	[17]
RP-AAV8	DMPWDT4	Investigative	NA	[17]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 229 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
YPEL2	OTW0JG0U	Limited	Autosomal dominant	[18]
TUB	OTLY5BAC	Supportive	Autosomal dominant	[19]
TULP1	OTHGHV6D	Supportive	Autosomal dominant	[20]
USH2A	OT6QRP86	Supportive	Autosomal dominant	[20]
ZNF408	OTWMFQPN	Supportive	Autosomal dominant	[21]
ZNF513	OT7XXXCX	Supportive	Autosomal dominant	[20]
ADIPOR1	OT65ZFZN	Limited	Autosomal dominant	[70]
AHI1	OT8K2YWY	Limited	Autosomal recessive	[71]
ARSI	OTIANNWW	Limited	Biomarker	[72]
CEP250	OT1GJM6C	Limited	Autosomal recessive	[22]
CLTA	OTLHOXMQ	Limited	Genetic Variation	[26]
CRB2	OTG0L2CE	Limited	Biomarker	[73]
DYNLT3	OT26QKCI	Limited	Biomarker	[74]
GDPD1	OTJUCFUA	Limited	Autosomal dominant	[18]
LCA5	OTQTCUWS	Limited	Biomarker	[75]
MAPRE3	OTSCLETV	Limited	Biomarker	[74]
MYO7A	OTBZSPEL	Limited	CausalMutation	[23]
NEUROD1	OTZQ7QJ2	Limited	Autosomal recessive	[76]
NIPAL1	OTRYI60X	Limited	Genetic Variation	[23]
NXNL1	OT92AILF	Limited	Genetic Variation	[77]
PHF3	OTNOYLG9	Limited	CausalMutation	[23]
POC5	OTHD4FIH	Limited	Autosomal recessive	[78]
PPIH	OTB3HCLB	Limited	Genetic Variation	[79]
SAMD11	OT6WRQOX	Limited	Autosomal recessive	[71]
SLU7	OTZUUICN	Limited	Biomarker	[80]
SPP2	OTX254AR	Limited	Autosomal dominant	[81]
ABCA4	OTMA4IG9	Supportive	Autosomal dominant	[20]
AGBL5	OTMLXQZ4	Supportive	Autosomal dominant	[82]
AHR	OTFE4EYE	Supportive	Autosomal dominant	[28]
ARHGEF18	OTOXEK8Y	Supportive	Autosomal dominant	[83]
ARL2BP	OT7REEDA	Supportive	Autosomal dominant	[84]
ARL3	OT3OGOMX	Supportive	Autosomal dominant	[85]
ARL6	OTLV3SBS	Supportive	Autosomal dominant	[20]
BBS2	OTPF9JIB	Supportive	Autosomal dominant	[86]
BEST1	OTWHE1ZC	Supportive	Autosomal dominant	[20]
CA4	OT3K93LZ	Supportive	Autosomal dominant	[20]
CDHR1	OT1ORXCM	Supportive	Autosomal dominant	[87]
CERKL	OTG4YGBR	Supportive	Autosomal dominant	[20]
CLRN1	OT1ADI7Q	Supportive	Autosomal dominant	[20]
CNGA1	OT0RXMJN	Supportive	Autosomal dominant	[20]
CNGB1	OTA5DE38	Supportive	Autosomal dominant	[20]
CRB1	OTXYUNG0	Supportive	Autosomal dominant	[20]
CRX	OTH435SV	Supportive	Autosomal dominant	[20]
DHDDS	OTVLYBUS	Supportive	Autosomal dominant	[20]
DHX38	OTBVB3W5	Supportive	Autosomal dominant	[88]
EYS	OT0NBPL5	Supportive	Autosomal dominant	[20]
FAM161A	OTF5ZRYJ	Supportive	Autosomal dominant	[20]
FSCN2	OTADS8G3	Supportive	Autosomal dominant	[20]
GUCA1B	OT85S0J3	Supportive	Autosomal dominant	[20]
HGSNAT	OTXPCELL	Supportive	Autosomal dominant	[89]
IDH3B	OTR89YF5	Supportive	Autosomal dominant	[20]
IFT140	OT6KO5FH	Supportive	Autosomal dominant	[90]
IFT172	OT12DW08	Supportive	Autosomal dominant	[91]
IFT88	OTDR3VBD	Supportive	Autosomal dominant	[92]
IMPDH1	OT6QGM5Y	Supportive	Autosomal dominant	[20]
IMPG2	OTFPSJ0T	Supportive	Autosomal dominant	[20]
KIAA1549	OTA5B18F	Supportive	Autosomal dominant	[93]
KIZ	OT5VCKSM	Supportive	Autosomal dominant	[94]
KLHL7	OT2OF1O8	Supportive	Autosomal dominant	[20]
LRAT	OTB7CJKY	Supportive	Autosomal dominant	[95]
MAK	OTEU2G41	Supportive	Autosomal dominant	[20]
MERTK	OTWBRAJ6	Supportive	Autosomal dominant	[20]
NEK2	OT1H27HO	Supportive	Autosomal dominant	[29]
NR2E3	OTO3GBHQ	Supportive	Autosomal dominant	[20]
NRL	OT65MFKQ	Supportive	Autosomal dominant	[20]
OFD1	OTAZW5TK	Supportive	Autosomal dominant	[96]
PCARE	OTUSRSB5	Supportive	Autosomal dominant	[20]
PDE6A	OTPUTR2K	Supportive	Autosomal dominant	[20]
PDE6B	OTOJMB1V	Supportive	Autosomal dominant	[20]
PDE6G	OTWA8TIQ	Supportive	Autosomal dominant	[20]
POMGNT1	OTBNOUZC	Supportive	Autosomal dominant	[97]
PRCD	OT64DNLW	Supportive	Autosomal dominant	[20]
PROM1	OTBHV8NX	Supportive	Autosomal dominant	[20]
PRPF3	OTUA4OLZ	Supportive	Autosomal dominant	[20]
PRPF31	OTSJ0Z1Y	Supportive	Autosomal dominant	[20]
PRPF4	OTK0XRQN	Supportive	Autosomal dominant	[98]
PRPF6	OT3U0ABN	Supportive	Autosomal dominant	[20]
PRPF8	OTU39JZI	Supportive	Autosomal dominant	[20]
PRPH2	OTNH2G5H	Supportive	Autosomal dominant	[20]
RBP3	OTIWM4GT	Supportive	Autosomal dominant	[20]
RDH12	OTELFRRJ	Supportive	Autosomal dominant	[20]
REEP6	OTY4FPO8	Supportive	Autosomal dominant	[99]
RGR	OTKCF5AZ	Supportive	Autosomal dominant	[20]
RHO	OT33SU2R	Supportive	Autosomal dominant	[20]
RLBP1	OTCY4D6B	Supportive	Autosomal dominant	[20]
ROM1	OTE7H0YV	Supportive	Autosomal dominant	[20]
RP1	OTDDT69Y	Supportive	Autosomal dominant	[20]
RP1L1	OTRKSQWQ	Supportive	Autosomal dominant	[100]
RP2	OTK050I3	Supportive	Autosomal dominant	[30]
RP9	OTGQY66H	Supportive	Autosomal dominant	[20]
RPE65	OTHS41XM	Supportive	Autosomal dominant	[20]
RPGR	OTJ7O69I	Supportive	Autosomal dominant	[30]
SAG	OTDNS3ZQ	Supportive	Autosomal dominant	[20]
SCAPER	OT7S3B3P	Supportive	Autosomal dominant	[101]
SEMA4A	OT8901H3	Supportive	Autosomal dominant	[20]
SLC7A14	OT07YJW4	Supportive	Autosomal dominant	[102]
SNRNP200	OTSAU864	Supportive	Autosomal dominant	[20]
SPATA7	OT78G2IH	Supportive	Autosomal dominant	[103]
TOPORS	OT1ERFFQ	Supportive	Autosomal dominant	[20]
TTC8	OTBGDZBD	Supportive	Autosomal dominant	[20]
ALDH18A1	OT6W40XU	moderate	Biomarker	[104]
BBS9	OT23V9YF	moderate	Genetic Variation	[105]
CCZ1B	OT1TTYK1	moderate	Biomarker	[62]
CROCC	OTVNOZSM	moderate	Biomarker	[62]
FOXI2	OTFQ0E2X	moderate	Biomarker	[62]
IMPG1	OT12HBL0	Moderate	Autosomal recessive	[106]
IRX5	OT05J514	moderate	Biomarker	[62]
NAALADL1	OTQNOZBP	moderate	Biomarker	[62]
PRTFDC1	OTKJ44KY	moderate	Biomarker	[62]
RAX2	OT1HD6CF	Moderate	Autosomal recessive	[107]
ABHD12	OTDP4F02	Strong	Biomarker	[108]
ADGRV1	OTLVXHHP	Strong	Biomarker	[109]
AIFM1	OTKPWB7Q	Strong	Therapeutic	[110]
AIPL1	OT4VBD78	Strong	Genetic Variation	[111]
ALG12	OTVAT4OJ	Strong	Biomarker	[112]
ARC	OTN2QQPG	Strong	Biomarker	[113]
ARPP21	OTWXZN5I	Strong	Genetic Variation	[114]
ATP6	OTPHOGLX	Strong	Genetic Variation	[115]
ATXN7	OTL3YF1H	Strong	Genetic Variation	[116]
BBS1	OTXSXB1K	Strong	CausalMutation	[23]
BBS10	OTL1TTWX	Strong	CausalMutation	[117]
BBS12	OT43DTAV	Strong	Genetic Variation	[23]
BRAP	OTB7BAFQ	Strong	Biomarker	[118]
C5AR2	OTP1Q82J	Strong	Genetic Variation	[119]
CANX	OTYP1F6J	Strong	Genetic Variation	[120]
CC2D2A	OTFGRGFR	Strong	Genetic Variation	[121]
CCDC66	OTE8VSSO	Strong	Genetic Variation	[122]
CDH23	OTOJGQ7S	Strong	Genetic Variation	[23]
CENPK	OTKPUF8K	Strong	Biomarker	[35]
CENPV	OTPQ0KT9	Strong	Biomarker	[123]
CEP78	OTTAI5S2	Strong	Genetic Variation	[124]
CFAP410	OTJ94J99	Strong	Biomarker	[125]
CNOT3	OT4D5Z9L	Strong	Genetic Variation	[126]
COG4	OT6U94UE	Strong	Genetic Variation	[127]
COQ8B	OTBY50BD	Strong	Genetic Variation	[128]
CWC27	OTB0HBP1	Strong	Biomarker	[129]
CYCS	OTBFALJD	Strong	Biomarker	[130]
CYP4V2	OTQKNK0D	Strong	Biomarker	[131]
DCUN1D1	OT8UJLZU	Strong	Genetic Variation	[132]
DGKE	OTWS86AS	Strong	Biomarker	[133]
DHX16	OTW8KZAU	Strong	Biomarker	[134]
DNAJC17	OTXRONMF	Strong	Genetic Variation	[135]
EFTUD2	OT3X7QG2	Strong	Genetic Variation	[136]
ELOVL4	OT2M9W26	Strong	Genetic Variation	[137]
ELOVL6	OTB26UJJ	Strong	Biomarker	[138]
ERG	OTOTX9VU	Strong	Biomarker	[139]
FGF5	OTQXGHBY	Strong	Biomarker	[41]
FLVCR1	OT9XCFOC	Strong	Genetic Variation	[140]
FRZB	OTTO3DPY	Strong	Altered Expression	[141]
GK	OTK2YRA0	Strong	Biomarker	[142]
GNAT1	OTK2SNJA	Strong	Biomarker	[130]
GNPTG	OTYO6ONR	Strong	Genetic Variation	[143]
GRB10	OTCKXGRC	Strong	Genetic Variation	[144]
GRK1	OT7MPSG7	Strong	Biomarker	[145]
GRK7	OT083IH0	Strong	Genetic Variation	[146]
HADHA	OTO557N2	Strong	Genetic Variation	[147]
HEPH	OTZ2F15Z	Strong	Biomarker	[148]
HSD17B6	OTSB55D2	Strong	Genetic Variation	[33]
IDH3A	OT5QQB5L	Strong	Biomarker	[149]
IMPA1	OTBUVW1Z	Strong	Biomarker	[118]
INVS	OT8KPESR	Strong	Genetic Variation	[150]
IQCB1	OTYQ28V9	Strong	Genetic Variation	[23]
JAKMIP1	OTEUYJIG	Strong	Genetic Variation	[151]
KL	OTD4VWU6	Strong	Biomarker	[152]
KLF15	OTGMQMVR	Strong	Genetic Variation	[153]
KNTC1	OTI2OOFN	Strong	Altered Expression	[154]
LPCAT1	OTCV7AGV	Strong	Genetic Variation	[155]
LSM2	OTHL77NY	Strong	Biomarker	[79]
MAP1A	OTHO8K43	Strong	Biomarker	[130]
MDH1	OTJEO4E8	Strong	Biomarker	[156]
MEIS2	OTG4ADLM	Strong	Posttranslational Modification	[157]
MFRP	OTHY9ZA5	Strong	Genetic Variation	[158]
MKKS	OTLF5T11	Strong	Genetic Variation	[159]
MPP4	OT7YG0AY	Strong	Altered Expression	[160]
MSTO1	OT37XCNP	Strong	Genetic Variation	[161]
NGB	OTW0SIUY	Strong	Altered Expression	[162]
NOC2L	OTNT7R33	Strong	Biomarker	[163]
NPHP3	OT8U8ELA	Strong	Genetic Variation	[164]
NPHP4	OTBNOA7U	Strong	Genetic Variation	[165]
NSMCE3	OTBD4MSP	Strong	Biomarker	[166]
NYX	OTAGXLYP	Strong	Biomarker	[167]
OPN4	OT1LZ7TS	Strong	Biomarker	[168]
OTX2	OTTV05B1	Strong	Altered Expression	[169]
PANK2	OTFBW889	Strong	CausalMutation	[170]
PCDH15	OTU9C2EH	Strong	Genetic Variation	[171]
PDC	OT1UUVYY	Strong	Genetic Variation	[172]
PDZD7	OTX3VAOB	Strong	Genetic Variation	[173]
PEX1	OTQJF0V7	Strong	Genetic Variation	[174]
PHYH	OTUG4BWA	Strong	Genetic Variation	[175]
PHYHIP	OTPC9JBM	Strong	Biomarker	[176]
PITPNM3	OTHLZY8D	Strong	Genetic Variation	[177]
PKNOX1	OTUDMNHX	Strong	Biomarker	[178]
PLAG1	OTT9AJQY	Strong	Biomarker	[25]
PLIN2	OTRXJ9UN	Strong	Genetic Variation	[179]
PROS1	OTXQWNOI	Strong	Biomarker	[25]
PRPH	OT6VUH78	Strong	Genetic Variation	[180]
RAB8A	OTPB54Y3	Strong	Biomarker	[181]
RCBTB1	OTAYELI8	Strong	Genetic Variation	[182]
RCC1	OT25AGMB	Strong	Genetic Variation	[181]
RD3	OT2L9Y6M	Strong	Genetic Variation	[183]
RDH11	OTIND43N	Strong	Genetic Variation	[33]
RIMS1	OT10T7CK	Strong	Genetic Variation	[184]
RPE	OT0XT3JU	Strong	Biomarker	[185]
RPGRIP1	OTABESO9	Strong	Genetic Variation	[186]
RRH	OTKHIYYT	Strong	Biomarker	[187]
SAMD7	OTZ5GHTQ	Strong	Genetic Variation	[188]
SDCCAG8	OTV2ZGV9	Strong	Genetic Variation	[189]
SEC14L1	OTA75FET	Strong	Altered Expression	[190]
SFRP2	OT8GZ0CA	Strong	Biomarker	[191]
SH3BP4	OTVIRKW7	Strong	Biomarker	[192]
SLC2A4RG	OTW3LX8D	Strong	Genetic Variation	[181]
SMC1A	OT9ZMRK9	Strong	Genetic Variation	[193]
SMC3	OTWGFRHD	Strong	Genetic Variation	[193]
SNRPB	OT3UJ4ZU	Strong	Biomarker	[194]
SOD3	OTIOZQAB	Strong	Altered Expression	[195]
STATH	OTQHBHM9	Strong	Genetic Variation	[196]
SYNJ1	OTTE02XC	Strong	Biomarker	[197]
TBX20	OTMPU2XQ	Strong	Biomarker	[198]
TENT5A	OTSYF511	Strong	Genetic Variation	[199]
TMED3	OTNOPHHC	Strong	Biomarker	[200]
TNMD	OTHLVA9G	Strong	Biomarker	[201]
TRNT1	OTD57ILL	Strong	Genetic Variation	[202]
AMFR	OTQRX7LC	Definitive	Biomarker	[203]
ATF6	OTAFHAVI	Definitive	Genetic Variation	[204]
BBS4	OT0D3JC0	Definitive	Genetic Variation	[205]
EXOSC2	OTN6NVKL	Definitive	Genetic Variation	[206]
PLEKHM1	OT1SLPGD	Definitive	Biomarker	[203]
PLXNA2	OTNNBJMQ	Definitive	Biomarker	[207]
SNAP29	OTT30ZON	Definitive	Altered Expression	[203]

This Disease Is Related to 61 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CEP250	TTPOA6U	Limited	Autosomal recessive	[22]
CNGB3	TT0LJCG	Limited	CausalMutation	[23]
CNTF	TTGEM5Q	Limited	Biomarker	[24]
KLK3	TTS78AZ	Limited	Biomarker	[25]
PTPRC	TTUS45N	Limited	Genetic Variation	[26]
SIGMAR1	TT5TPI6	Limited	Altered Expression	[27]
AHR	TT037IE	Supportive	Autosomal dominant	[28]
CA4	TTZHA0O	Supportive	Autosomal dominant	[20]
CNGA1	TTHIQMC	Supportive	Autosomal dominant	[20]
IMPDH1	TT3GRLK	Supportive	Autosomal dominant	[20]
MERTK	TTO7LKR	Supportive	Autosomal dominant	[20]
NEK2	TT3VZ24	Supportive	Autosomal dominant	[29]
PROM1	TTXMZ81	Supportive	Autosomal dominant	[20]
RHO	TTH0KSX	Supportive	Autosomal dominant	[20]
RPE65	TTBOH16	Supportive	Autosomal dominant	[20]
RPGR	TTHBDA9	Supportive	Autosomal dominant	[30]
USH2A	TTVCLLA	Supportive	Autosomal dominant	[20]
CA4	TTZHA0O	moderate	Altered Expression	[31]
RPE65	TTBOH16	moderate	CausalMutation	[23]
TSPAN7	TTMT6VE	moderate	Biomarker	[32]
ADH7	TT3LE7P	Strong	Genetic Variation	[33]
AHR	TT037IE	Strong	GermlineCausalMutation	[28]
ALDH3A2	TTB6UM0	Strong	Genetic Variation	[34]
C1QBP	TTWTD7F	Strong	Biomarker	[35]
CACNA1F	TTJ0SO4	Strong	Genetic Variation	[36]
CACNA1S	TT94HRF	Strong	Biomarker	[37]
CEP250	TTPOA6U	Strong	Genetic Variation	[22]
CEP290	TT3XBOV	Strong	CausalMutation	[23]
CHM	TTOA18V	Strong	CausalMutation	[23]
CLN3	TTORF9W	Strong	Genetic Variation	[38]
CNGA1	TTHIQMC	Strong	Genetic Variation	[23]
CRLF1	TT6YF5K	Strong	Biomarker	[39]
FANCF	TTNZKFJ	Strong	Biomarker	[40]
FGF18	TT6ICRA	Strong	Biomarker	[41]
FGFR2	TTGJVQM	Strong	Therapeutic	[41]
GRIN2B	TTN9D8E	Strong	Biomarker	[42]
HKDC1	TTVUI8G	Strong	Genetic Variation	[43]
IMPDH1	TT3GRLK	Strong	Genetic Variation	[44]
LTB	TTHQ6US	Strong	Biomarker	[35]
MERTK	TTO7LKR	Strong	Genetic Variation	[45]
MVK	TT5DFHW	Strong	Genetic Variation	[46]
NAGLU	TTDM6HZ	Strong	Genetic Variation	[47]
NEK2	TT3VZ24	Strong	GermlineCausalMutation	[29]
NGF	TTDN3LF	Strong	Altered Expression	[48]
NPEPPS	TT371QC	Strong	Biomarker	[25]
NPTX2	TTNJ5A6	Strong	Genetic Variation	[49]
NRG4	TTWAGKJ	Strong	Genetic Variation	[50]
OTC	TT5KIO9	Strong	Genetic Variation	[51]
PNPLA6	TTWAQU2	Strong	Biomarker	[52]
PRKCG	TTRFOXJ	Strong	Genetic Variation	[53]
PROM1	TTXMZ81	Strong	Biomarker	[54]
RBP4	TT0C8BY	Strong	Genetic Variation	[55]
RPGR	TTHBDA9	Strong	CausalMutation	[23]
SGSH	TTPJ2SH	Strong	Genetic Variation	[56]
SLC19A2	TT2A1DZ	Strong	Genetic Variation	[57]
STC1	TTDLUER	Strong	Biomarker	[58]
TMPRSS2	TT1GM2Z	Strong	Biomarker	[59]
USH2A	TTVCLLA	Strong	Genetic Variation	[23]
VCP	TTHNLSB	Strong	Biomarker	[60]
ARL2	TTIDSFT	Definitive	Biomarker	[50]
CACNA1A	TTX4QDJ	Definitive	Biomarker	[61]

This Disease Is Related to 4 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ABCA4	DTM4YG0	Supportive	Autosomal dominant	[20]
SLC37A3	DTPF4RB	moderate	Biomarker	[62]
ABCC6	DT582KR	Strong	Genetic Variation	[63]
SLC24A1	DTJZ7M5	Strong	Genetic Variation	[64]

This Disease Is Related to 6 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
HK1	DEDMAGE	Strong	Biomarker	[65]
MT2A	DEFKGT7	Strong	Biomarker	[66]
NT5C2	DE1DOKJ	Strong	Biomarker	[67]
PMM2	DEBRX3L	Strong	Genetic Variation	[68]
PSAT1	DEBS17P	Strong	Biomarker	[25]
RDH5	DESI4OK	Strong	Genetic Variation	[69]

References

• [1] Unoprostone FDA Label
• [2] Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
• [3] ClinicalTrials.gov (NCT04850118) A Clinical Trial Evaluating the Safety and Efficacy of a Single Subretinal Injection of AGTC-501 in Participants With X-linked Retinitis Pigmentosa Caused by RPGR Mutations. U.S. National Institutes of Health.
• [4] ClinicalTrials.gov (NCT05176717) A Double-Masked, Randomized, Controlled, Multiple-Dose Study to Evaluate the Efficacy, Safety and Tolerability of QR-421a in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene With Early to Moderate Vision Loss. U.S.National Institutes of Health.
• [5] ClinicalTrials.gov (NCT04604899) A Phase 2 Study of the Safety of Repeat Intravitreal Injection of Human Retinal Progenitor Cells (jCell) in Adult Subjects With Retinitis Pigmentosa (RP). U.S.National Institutes of Health.
• [6] ClinicalTrials.gov (NCT04945772) A Phase 2b Randomized, Double-Masked, Sham-Controlled, Study to Evaluate the Efficacy and Safety of Intravitreal Injection of MCO-010 Optogenetic Therapy in Adults With Retinitis Pigmentosa [RESTORE]. U.S.National Institutes of Health.
• [7] ClinicalTrials.gov (NCT02520583) The Effects of Probiotic Supplementation on Markers of Muscle Damage and Performance Following Exercise Induced Muscle Damage.
• [8] Clinical pipeline report, company report or official report of MeiraGTx.
• [9] ClinicalTrials.gov (NCT03316560) Safety and Efficacy of rAAV2tYF-GRK1-RPGR in Subjects With X-linked Retinitis Pigmentosa Caused by RPGR Mutations. U.S. National Institutes of Health.
• [10] ClinicalTrials.gov (NCT01226628) A Safety Study of CNTO 2476 in Patients With Age-Related Macular Degeneration. U.S. National Institutes of Health.
• [11] ClinicalTrials.gov (NCT03374657) A First-in-human, Proof of Concept Study of CPK850 in Patients With RLBP1 Retinitis Pigmentosa. U.S. National Institutes of Health.
• [12] ClinicalTrials.gov (NCT03326336) A Phase 1/2a, Open-Label, Non-Randomized, Dose-Escalation Study to Evaluate the Safety and Tolerability of GS030 in Subjects With Retinitis Pigmentosa. U.S.National Institutes of Health.
• [13] ClinicalTrials.gov (NCT04123626) A Prospective First-In-Human Study to Evaluate the Safety and Tolerability of QR-1123 in Subjects With Autosomal Dominant Retinitis Pigmentosa (adRP) Due to the P23H Mutation in the RHO Gene. U.S.National Institutes of Health.
• [14] Clinical pipeline report, company report or official report of Reneuron.
• [15] ClinicalTrials.gov (NCT01736592) A Study to Determine the Long Term Safety, Tolerability and Biological Activity of StarGen in Patients With Stargardt's Macular Degeneration. U.S. National Institutesof Health.
• [16] ClinicalTrials.gov (NCT01423526) A Single Dose Study of DWP10292 in Healthy Male Subjects. U.S. National Institutes of Health.
• [17] The ChEMBL database in 2017. Nucleic Acids Res. 2017 Jan 4;45(D1):D945-D954.
• [18] Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa. Am J Hum Genet. 2020 Nov 5;107(5):802-814. doi: 10.1016/j.ajhg.2020.09.002. Epub 2020 Oct 5.
• [19] A homozygous mutation in the TUB gene associated with retinal dystrophy and obesity. Hum Mutat. 2014 Mar;35(3):289-93. doi: 10.1002/humu.22482. Epub 2013 Dec 20.
• [20] Nonsyndromic Retinitis Pigmentosa Overview. 2000 Aug 4 [updated 2023 Apr 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
• [21] Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations. Hum Mol Genet. 2015 Jul 15;24(14):4037-48. doi: 10.1093/hmg/ddv140. Epub 2015 Apr 16.
• [22] Functional characterization of CEP250 variant identified in nonsyndromic retinitis pigmentosa. Hum Mutat. 2019 Aug;40(8):1039-1045. doi: 10.1002/humu.23759. Epub 2019 Apr 18.
• [23] Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.Sci Rep. 2019 Feb 4;9(1):1219. doi: 10.1038/s41598-018-38007-2.
• [24] CNTF Gene Therapy Confers Lifelong Neuroprotection in a Mouse Model of Human Retinitis Pigmentosa.Mol Ther. 2015 Aug;23(8):1308-1319. doi: 10.1038/mt.2015.68. Epub 2015 Apr 21.
• [25] Does proximity of positive prostate biopsy core to capsular margin help predict side-specific extracapsular extension at prostatectomy?.Can J Urol. 2019 Feb;26(1):9634-9643.
• [26] PRPH2/RDS and ROM-1: Historical context, current views and future considerations.Prog Retin Eye Res. 2016 May;52:47-63. doi: 10.1016/j.preteyeres.2015.12.002. Epub 2016 Jan 8.
• [27] The molecular chaperone sigma 1 receptor mediates rescue of retinal cone photoreceptor cells via modulation of NRF2.Free Radic Biol Med. 2019 Apr;134:604-616. doi: 10.1016/j.freeradbiomed.2019.02.001. Epub 2019 Feb 10.
• [28] A splicing mutation in aryl hydrocarbon receptor associated with retinitis pigmentosa. Hum Mol Genet. 2018 Jul 15;27(14):2563-2572. doi: 10.1093/hmg/ddy165.
• [29] Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene. Proc Natl Acad Sci U S A. 2013 Oct 1;110(40):16139-44. doi: 10.1073/pnas.1308243110. Epub 2013 Sep 16.
• [30] Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.
• [31] Screening for the carbonic anhydrase IV gene mutations in Chinese retinitis pigmentosa patients.Curr Eye Res. 2010 May;35(5):440-4. doi: 10.3109/02713680903503512.
• [32] Oligomerization of Prph2 and Rom1 is essential for photoreceptor outer segment formation.Hum Mol Genet. 2018 Oct 15;27(20):3507-3518. doi: 10.1093/hmg/ddy240.
• [33] New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11. Hum Mol Genet. 2014 Nov 1;23(21):5774-80. doi: 10.1093/hmg/ddu291. Epub 2014 Jun 10.
• [34] Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing. Hum Mutat. 2008 Mar;29(3):418-26. doi: 10.1002/humu.20669.
• [35] (Z)-7,4'-Dimethoxy-6-hydroxy-aurone-4-O--glucopyranoside mitigates retinal degeneration in Rd10 mouse model through inhibiting oxidative stress and inflammatory responses.Cutan Ocul Toxicol. 2020 Mar;39(1):36-42. doi: 10.1080/15569527.2019.1685535. Epub 2019 Nov 6.
• [36] Identification of a novel heterozygous missense mutation in the CACNA1F gene in a chinese family with retinitis pigmentosa by next generation sequencing.Biomed Res Int. 2015;2015:907827. doi: 10.1155/2015/907827. Epub 2015 May 17.
• [37] Fine mapping of the autosomal recessive retinitis pigmentosa locus (RP12) on chromosome 1q; exclusion of the phosducin gene (PDC).Cytogenet Cell Genet. 1996;73(1-2):81-5. doi: 10.1159/000134313.
• [38] Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.Hum Genet. 2014 Mar;133(3):331-45. doi: 10.1007/s00439-013-1381-5. Epub 2013 Oct 24.
• [39] Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa. Am J Hum Genet. 2016 Jul 7;99(1):236-45. doi: 10.1016/j.ajhg.2016.05.026.
• [40] Optical coherence tomography angiography in patients with retinitis pigmentosa who have normal visual acuity.Acta Ophthalmol. 2018 Aug;96(5):e636-e642. doi: 10.1111/aos.13680. Epub 2018 Mar 1.
• [41] Two animal models of retinal degeneration are rescued by recombinant adeno-associated virus-mediated production of FGF-5 and FGF-18.Mol Ther. 2001 Apr;3(4):507-15. doi: 10.1006/mthe.2001.0289.
• [42] Alterations in NMDA receptor expression during retinal degeneration in the RCS rat.Vis Neurosci. 2001 Sep-Oct;18(5):781-7. doi: 10.1017/s0952523801185111.
• [43] Whole-exome sequencing revealed HKDC1 as a candidate gene associated with autosomal-recessive retinitis pigmentosa.Hum Mol Genet. 2018 Dec 1;27(23):4157-4168. doi: 10.1093/hmg/ddy281.
• [44] The functional impact of the C/N-terminal extensions of the mouse retinal IMPDH1 isoforms: a kinetic evaluation.Mol Cell Biochem. 2020 Feb;465(1-2):155-164. doi: 10.1007/s11010-019-03675-9. Epub 2019 Dec 14.
• [45] Targeted next generation sequencing identified novel loss-of-function mutations in MERTK gene in Chinese patients with retinitis pigmentosa.Mol Genet Genomic Med. 2019 Apr;7(4):e00577. doi: 10.1002/mgg3.577. Epub 2019 Feb 20.
• [46] Mevalonate kinase deficiency associated with ataxia and retinitis pigmentosa in two brothers with MVK gene mutations.Ophthalmic Genet. 2017 Jul-Aug;38(4):340-344. doi: 10.1080/13816810.2016.1227459. Epub 2017 Jan 17.
• [47] Processing of mutant N-acetyl--glucosaminidase in mucopolysaccharidosis type IIIB fibroblasts cultured at low temperature.Mol Genet Metab. 2017 Sep;122(1-2):100-106. doi: 10.1016/j.ymgme.2017.07.005. Epub 2017 Jul 12.
• [48] Expression and signaling of NGF in the healthy and injured retina.Cytokine Growth Factor Rev. 2017 Apr;34:43-57. doi: 10.1016/j.cytogfr.2016.11.005. Epub 2016 Dec 2.
• [49] Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease.Eur J Paediatr Neurol. 2001;5(3):127-31. doi: 10.1053/ejpn.2001.0483.
• [50] Whole-exome sequencing identified ARL2 as a novel candidate gene for MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome.Clin Genet. 2019 Jul;96(1):61-71. doi: 10.1111/cge.13541. Epub 2019 Apr 22.
• [51] Fine mapping of canine XLPRA establishes homology of the human and canine RP3 intervals.Invest Ophthalmol Vis Sci. 2001 Oct;42(11):2466-71.
• [52] The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview.J Inherit Metab Dis. 2015 Jan;38(1):19-40. doi: 10.1007/s10545-014-9776-6. Epub 2014 Nov 21.
• [53] R659S mutation of gammaPKC is susceptible to cell death: implication of this mutation/polymorphism in the pathogenesis of retinitis pigmentosa.Neurochem Int. 2006 Dec;49(7):669-75. doi: 10.1016/j.neuint.2006.05.005. Epub 2006 Jul 7.
• [54] Identification of the PROM1 Mutation p.R373C in a Korean Patient With Autosomal Dominant Stargardt-like Macular Dystrophy.Ann Lab Med. 2017 Nov;37(6):536-539. doi: 10.3343/alm.2017.37.6.536.
• [55] Exome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalities. PLoS One. 2012;7(11):e50205. doi: 10.1371/journal.pone.0050205. Epub 2012 Nov 26.
• [56] Characterization of a Case of Pigmentary Retinopathy in Sanfilippo Syndrome Type IIIA Associated with Compound Heterozygous Mutations in the SGSH Gene.Ophthalmic Genet. 2016 Jun;37(2):217-27. doi: 10.3109/13816810.2015.1028647. Epub 2015 Sep 2.
• [57] Novel nonsense mutation (p.Ile411Metfs*12) in the SLC19A2 gene causing Thiamine Responsive Megaloblastic Anemia in an Indian patient.Clin Chim Acta. 2016 Jan 15;452:44-9. doi: 10.1016/j.cca.2015.11.002. Epub 2015 Nov 5.
• [58] Long-term photoreceptor rescue in two rodent models of retinitis pigmentosa by adeno-associated virus delivery of Stanniocalcin-1.Exp Eye Res. 2017 Dec;165:175-181. doi: 10.1016/j.exer.2017.09.011. Epub 2017 Sep 30.
• [59] Urine Exosomes for Non-Invasive Assessment of Gene Expression and Mutations of Prostate Cancer.PLoS One. 2016 May 4;11(5):e0154507. doi: 10.1371/journal.pone.0154507. eCollection 2016.
• [60] Novel VCP modulators mitigate major pathologies of rd10, a mouse model of retinitis pigmentosa.Sci Rep. 2014 Aug 6;4:5970. doi: 10.1038/srep05970.
• [61] Clinical and neuroradiological features of patients with spinocerebellar ataxias from Korean kindreds.Arch Neurol. 2003 Nov;60(11):1566-74. doi: 10.1001/archneur.60.11.1566.
• [62] Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.Am J Hum Genet. 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29.
• [63] Novel mutation in ABCC6 gene in a Japanese pedigree with pseudoxanthoma elasticum and retinitis pigmentosa.Eye (Lond). 2005 Feb;19(2):215-7. doi: 10.1038/sj.eye.6701449.
• [64] Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations.Sci Rep. 2016 Sep 14;6:33248. doi: 10.1038/srep33248.
• [65] A missense mutation in HK1 leads to autosomal dominant retinitis pigmentosa.Invest Ophthalmol Vis Sci. 2014 Oct 14;55(11):7159-64. doi: 10.1167/iovs.14-15520.
• [66] Altered expression of metallothionein-I and -II and their receptor megalin in inherited photoreceptor degeneration.Invest Ophthalmol Vis Sci. 2010 Sep;51(9):4809-20. doi: 10.1167/iovs.09-5073. Epub 2010 Mar 31.
• [67] Basis for intracellular retention of a human mutant of the retinal rod channel alpha subunit.J Membr Biol. 2002 Jan 15;185(2):129-36. doi: 10.1007/s00232-001-0119-9. Epub 2002 Feb 5.
• [68] Retinal characteristics of the congenital disorder of glycosylation PMM2-CDG.J Inherit Metab Dis. 2013 Nov;36(6):1039-47. doi: 10.1007/s10545-013-9594-2. Epub 2013 Feb 22.
• [69] Novel RDH5 mutation in family with mother having fundus albipunctatus and three children with retinitis pigmentosa.Ophthalmic Genet. 2008 Mar;29(1):29-32. doi: 10.1080/13816810701663535.
• [70] A mutation in ADIPOR1 causes nonsyndromic autosomal dominant retinitis pigmentosa. Hum Genet. 2016 Dec;135(12):1375-1387. doi: 10.1007/s00439-016-1730-2. Epub 2016 Sep 21.
• [71] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
• [72] Characterization of the arylsulfatase I (ARSI) gene preferentially expressed in the human retinal pigment epithelium cell line ARPE-19.Mol Vis. 2009;15:482-94. Epub 2009 Mar 6.
• [73] Loss of CRB2 in Mller glial cells modifies a CRB1-associated retinitis pigmentosa phenotype into a Leber congenital amaurosis phenotype.Hum Mol Genet. 2019 Jan 1;28(1):105-123. doi: 10.1093/hmg/ddy337.
• [74] A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3).Nat Genet. 1996 May;13(1):35-42. doi: 10.1038/ng0596-35.
• [75] Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population.Ophthalmology. 2014 Jan;121(1):399-407. doi: 10.1016/j.ophtha.2013.08.028. Epub 2013 Oct 18.
• [76] A homozygous missense mutation in NEUROD1 is associated with nonsyndromic autosomal recessive retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2014 Dec 4;56(1):150-5. doi: 10.1167/iovs.14-15382.
• [77] Rod-derived cone viability factor promotes cone survival by stimulating aerobic glycolysis.Cell. 2015 May 7;161(4):817-32. doi: 10.1016/j.cell.2015.03.023.
• [78] Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosa. Hum Mol Genet. 2018 Feb 15;27(4):614-624. doi: 10.1093/hmg/ddx428.
• [79] PRPF4 is a novel therapeutic target for the treatment of breast cancer by influencing growth, migration, invasion, and apoptosis of breast cancer cells via p38 MAPK signaling pathway.Mol Cell Probes. 2019 Oct;47:101440. doi: 10.1016/j.mcp.2019.101440. Epub 2019 Aug 22.
• [80] Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs.Am J Hum Genet. 2009 Nov;85(5):617-27. doi: 10.1016/j.ajhg.2009.09.020. Epub 2009 Oct 29.
• [81] SPP2 Mutations Cause Autosomal Dominant Retinitis Pigmentosa. Sci Rep. 2015 Oct 13;5:14867. doi: 10.1038/srep14867.
• [82] Exome Sequencing Reveals AGBL5 as Novel Candidate Gene and Additional Variants for Retinitis Pigmentosa in Five Turkish Families. Invest Ophthalmol Vis Sci. 2015 Dec;56(13):8045-53. doi: 10.1167/iovs.15-17473.
• [83] Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration. Am J Hum Genet. 2017 Feb 2;100(2):334-342. doi: 10.1016/j.ajhg.2016.12.014. Epub 2017 Jan 26.
• [84] Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa. Am J Hum Genet. 2013 Aug 8;93(2):321-9. doi: 10.1016/j.ajhg.2013.06.003. Epub 2013 Jul 11.
• [85] De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa. PLoS One. 2016 Mar 10;11(3):e0150944. doi: 10.1371/journal.pone.0150944. eCollection 2016.
• [86] Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa. JAMA Ophthalmol. 2015 Mar;133(3):312-8. doi: 10.1001/jamaophthalmol.2014.5251.
• [87] Biallelic mutation of protocadherin-21 (PCDH21) causes retinal degeneration in humans. Mol Vis. 2010 Jan 15;16:46-52.
• [88] Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa. Invest Ophthalmol Vis Sci. 2018 Sep 4;59(11):4552-4557. doi: 10.1167/iovs.18-23849.
• [89] Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT). Hum Mol Genet. 2015 Jul 1;24(13):3742-51. doi: 10.1093/hmg/ddv118. Epub 2015 Apr 9.
• [90] Mutations in human IFT140 cause non-syndromic retinal degeneration. Hum Genet. 2015 Oct;134(10):1069-78. doi: 10.1007/s00439-015-1586-x. Epub 2015 Jul 28.
• [91] Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome. Hum Mol Genet. 2015 Jan 1;24(1):230-42. doi: 10.1093/hmg/ddu441. Epub 2014 Aug 28.
• [92] IFT88 mutations identified in individuals with non-syndromic recessive retinal degeneration result in abnormal ciliogenesis. Hum Genet. 2018 Jul;137(6-7):447-458. doi: 10.1007/s00439-018-1897-9. Epub 2018 Jul 5.
• [93] Homozygous variants in KIAA1549, encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa. J Med Genet. 2018 Oct;55(10):705-712. doi: 10.1136/jmedgenet-2018-105364. Epub 2018 Aug 17.
• [94] Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy. Am J Hum Genet. 2014 Apr 3;94(4):625-33. doi: 10.1016/j.ajhg.2014.03.005. Epub 2014 Mar 27.
• [95] Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays. Invest Ophthalmol Vis Sci. 2007 Dec;48(12):5690-8. doi: 10.1167/iovs.07-0610.
• [96] Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23). Hum Mol Genet. 2012 Aug 15;21(16):3647-54. doi: 10.1093/hmg/dds194. Epub 2012 May 22.
• [97] Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa. Hum Mol Genet. 2016 Apr 15;25(8):1479-88. doi: 10.1093/hmg/ddw022. Epub 2016 Jan 28.
• [98] PRPF4 mutations cause autosomal dominant retinitis pigmentosa. Hum Mol Genet. 2014 Jun 1;23(11):2926-39. doi: 10.1093/hmg/ddu005. Epub 2014 Jan 12.
• [99] Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa. Am J Hum Genet. 2016 Dec 1;99(6):1305-1315. doi: 10.1016/j.ajhg.2016.10.008. Epub 2016 Nov 23.
• [100] Novel homozygous loss-of-function mutations in RP1 and RP1L1 genes in retinitis pigmentosa patients. Ophthalmic Genet. 2019 Dec;40(6):507-513. doi: 10.1080/13816810.2019.1703014. Epub 2019 Dec 13.
• [101] Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability. J Med Genet. 2017 Sep 18;54(10):698-704. doi: 10.1136/jmedgenet-2017-104632. Epub 2017 Aug 9.
• [102] SLC7A14 linked to autosomal recessive retinitis pigmentosa. Nat Commun. 2014 Mar 27;5:3517. doi: 10.1038/ncomms4517.
• [103] Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa. Am J Hum Genet. 2009 Mar;84(3):380-7. doi: 10.1016/j.ajhg.2009.02.005. Epub 2009 Mar 5.
• [104] Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature.Eur J Paediatr Neurol. 2014 Jul;18(4):511-5. doi: 10.1016/j.ejpn.2014.01.003. Epub 2014 Feb 28.
• [105] In search of triallelism in Bardet-Biedl syndrome. Eur J Hum Genet. 2012 Apr;20(4):420-7. doi: 10.1038/ejhg.2011.205. Epub 2012 Feb 22.
• [106] Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa. J Med Genet. 2021 Aug;58(8):570-578. doi: 10.1136/jmedgenet-2020-107150. Epub 2020 Aug 17.
• [107] Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease. Genet Med. 2019 Jun;21(6):1319-1329. doi: 10.1038/s41436-018-0345-5. Epub 2018 Oct 31.
• [108] Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.Ophthalmology. 2014 Aug;121(8):1620-7. doi: 10.1016/j.ophtha.2014.02.008. Epub 2014 Mar 31.
• [109] Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II. Am J Hum Genet. 2004 Feb;74(2):357-66. doi: 10.1086/381685. Epub 2004 Jan 20.
• [110] Inhibitory peptide of mitochondrial -calpain protects against photoreceptor degeneration in rhodopsin transgenic S334ter and P23H rats.PLoS One. 2013 Aug 9;8(8):e71650. doi: 10.1371/journal.pone.0071650. eCollection 2013.
• [111] Gene therapy with a promoter targeting both rods and cones rescues retinal degeneration caused by AIPL1 mutations.Gene Ther. 2010 Jan;17(1):117-31. doi: 10.1038/gt.2009.104. Epub 2009 Aug 27.
• [112] Ocular abnormalities in a patient with congenital disorder of glycosylation type Ig.Ophthalmic Genet. 2019 Dec;40(6):549-552. doi: 10.1080/13816810.2019.1692361. Epub 2019 Nov 19.
• [113] Multiple cytokine analyses of aqueous humor from the patients with retinitis pigmentosa.Cytokine. 2020 Mar;127:154943. doi: 10.1016/j.cyto.2019.154943. Epub 2019 Dec 3.
• [114] Tyrosine-mutant AAV8 delivery of human MERTK provides long-term retinal preservation in RCS rats.Invest Ophthalmol Vis Sci. 2012 Apr 6;53(4):1895-904. doi: 10.1167/iovs.11-8831.
• [115] ATP6 homoplasmic mutations inhibit and destabilize the human F1F0-ATP synthase without preventing enzyme assembly and oligomerization.J Biol Chem. 2007 Jan 12;282(2):1051-8. doi: 10.1074/jbc.M606828200. Epub 2006 Nov 22.
• [116] The wide spectrum of spinocerebellar ataxias (SCAs).Cerebellum. 2005;4(1):2-6. doi: 10.1080/14734220510007914.
• [117] BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nat Genet. 2006 May;38(5):521-4. doi: 10.1038/ng1771. Epub 2006 Apr 2.
• [118] IMP dehydrogenase-linked retinitis pigmentosa.Nucleosides Nucleotides Nucleic Acids. 2008 Jun;27(6):839-49. doi: 10.1080/15257770802146486.
• [119] A novel mutation in C5L2 gene was associated with hyperlipidemia and retinitis pigmentosa in a Chinese family.Lipids Health Dis. 2014 May 6;13:75. doi: 10.1186/1476-511X-13-75.
• [120] Calnexin improves the folding efficiency of mutant rhodopsin in the presence of pharmacological chaperone 11-cis-retinal.J Biol Chem. 2009 Nov 27;284(48):33333-42. doi: 10.1074/jbc.M109.043364. Epub 2009 Oct 2.
• [121] CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.Am J Hum Genet. 2008 Apr;82(4):1011-8. doi: 10.1016/j.ajhg.2008.01.021.
• [122] Ccdc66 null mutation causes retinal degeneration and dysfunction.Hum Mol Genet. 2011 Sep 15;20(18):3620-31. doi: 10.1093/hmg/ddr282. Epub 2011 Jun 16.
• [123] Melatonin delays photoreceptor degeneration in a mouse model of autosomal recessive retinitis pigmentosa.J Pineal Res. 2017 Oct;63(3). doi: 10.1111/jpi.12428. Epub 2017 Jun 20.
• [124] Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects. Am J Hum Genet. 2016 Sep 1;99(3):770-776. doi: 10.1016/j.ajhg.2016.07.009.
• [125] Identification of Novel Mutations in the LRR-Cap Domain of C21orf2 in Japanese Patients With Retinitis Pigmentosa and Cone-Rod Dystrophy.Invest Ophthalmol Vis Sci. 2016 Aug 1;57(10):4255-63. doi: 10.1167/iovs.16-19450.
• [126] Dominant PRPF31 mutations are hypostatic to a recessive CNOT3 polymorphism in retinitis pigmentosa: a novel phenomenon of "linked trans-acting epistasis".Ann Hum Genet. 2014 Jan;78(1):62-71. doi: 10.1111/ahg.12042. Epub 2013 Oct 14.
• [127] A new genetic locus for X linked progressive cone-rod dystrophy.J Med Genet. 2003 Jun;40(6):418-23. doi: 10.1136/jmg.40.6.418.
• [128] ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS.J Am Soc Nephrol. 2016 Jan;27(1):63-8. doi: 10.1681/ASN.2014121240. Epub 2015 May 12.
• [129] Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies. Am J Hum Genet. 2017 Apr 6;100(4):592-604. doi: 10.1016/j.ajhg.2017.02.008. Epub 2017 Mar 9.
• [130] Autophagy in Xenopus laevis rod photoreceptors is independently regulated by phototransduction and misfolded RHO(P23H).Autophagy. 2019 Nov;15(11):1970-1989. doi: 10.1080/15548627.2019.1596487. Epub 2019 Apr 12.
• [131] CHOROIDAL AND RETINAL ATROPHY OF BIETTI CRYSTALLINE DYSTROPHY PATIENTS WITH CYP4V2 MUTATIONS COMPARED TO RETINITIS PIGMENTOSA PATIENTS WITH EYS MUTATIONS.Retina. 2017 Jun;37(6):1193-1202. doi: 10.1097/IAE.0000000000001323.
• [132] Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa. Am J Hum Genet. 2009 Jun;84(6):792-800. doi: 10.1016/j.ajhg.2009.05.007.
• [133] Characterization of the human diacylglycerol kinase epsilon gene and its assessment as a candidate for inherited retinitis pigmentosa.Gene. 1999 Oct 18;239(1):185-92. doi: 10.1016/s0378-1119(99)00345-5.
• [134] Retinitis Pigmentosa Mutations in Bad Response to Refrigeration 2 (Brr2) Impair ATPase and Helicase Activity.J Biol Chem. 2016 Jun 3;291(23):11954-65. doi: 10.1074/jbc.M115.710848. Epub 2016 Apr 12.
• [135] Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies.Genet Med. 2016 Jun;18(6):554-62. doi: 10.1038/gim.2015.127. Epub 2015 Sep 10.
• [136] Structure of a multipartite protein-protein interaction domain in splicing factor prp8 and its link to retinitis pigmentosa.Mol Cell. 2007 Feb 23;25(4):615-24. doi: 10.1016/j.molcel.2007.01.023.
• [137] Evaluation of the ELOVL4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis.Mol Vis. 2003 Feb 18;9:49-51.
• [138] Baldspot/ELOVL6 is a conserved modifier of disease and the ER stress response.PLoS Genet. 2018 Aug 6;14(8):e1007557. doi: 10.1371/journal.pgen.1007557. eCollection 2018 Aug.
• [139] Time and frequency components of ERG responses in retinitis pigmentosa.Int Ophthalmol. 2018 Dec;38(6):2435-2444. doi: 10.1007/s10792-017-0748-3. Epub 2017 Nov 30.
• [140] Phenotypic spectrum of autosomal recessive retinitis pigmentosa without posterior column ataxia caused by mutations in the FLVCR1 gene.Graefes Arch Clin Exp Ophthalmol. 2019 Mar;257(3):629-638. doi: 10.1007/s00417-018-04233-7. Epub 2019 Jan 17.
• [141] Modulated expression of secreted frizzled-related proteins in human retinal degeneration.Neuroreport. 2000 Dec 18;11(18):3963-7. doi: 10.1097/00001756-200012180-00012.
• [142] Mental retardation locus in Xp21 chromosome microdeletion.Am J Med Genet. 1993 Jun 1;46(4):363-8. doi: 10.1002/ajmg.1320460404.
• [143] Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities.J Pathol. 2011 Sep;225(1):12-8. doi: 10.1002/path.2941.
• [144] Analysis of the IRBP gene as a cause of RP in 45 ARRP Spanish families. Autosomal recessive retinitis pigmentosa. Interstitial retinol binding protein. Spanish Multicentric and Multidisciplinary Group for Research into Retinitis Pigmentosa.Ophthalmic Genet. 1998 Dec;19(4):197-202. doi: 10.1076/opge.19.4.197.2312.
• [145] Toxicology and Pharmacology of an AAV Vector Expressing Codon-Optimized RPGR in RPGR-Deficient Rd9 Mice.Hum Gene Ther Clin Dev. 2018 Dec;29(4):188-197. doi: 10.1089/humc.2018.168.
• [146] Evaluation of the rhodopsin kinase gene in patients with retinitis pigmentosa.Exp Eye Res. 1997 Aug;65(2):249-53. doi: 10.1006/exer.1997.9998.
• [147] Exome-based search for recurrent disease-causing alleles in Russian population.Eur J Med Genet. 2019 Jul;62(7):103656. doi: 10.1016/j.ejmg.2019.04.013. Epub 2019 Apr 24.
• [148] Altered intra- and inter-regional functional connectivity of the visual cortex in individuals with peripheral vision loss due to retinitis pigmentosa.Vision Res. 2019 Jun;159:68-75. doi: 10.1016/j.visres.2019.02.013. Epub 2019 Apr 16.
• [149] Mouse Idh3a mutations cause retinal degeneration and reduced mitochondrial function.Dis Model Mech. 2018 Dec 18;11(12):dmm036426. doi: 10.1242/dmm.036426.
• [150] Retinitis pigmentosa and renal failure in a patient with mutations in INVS. Nephrol Dial Transplant. 2006 Jul;21(7):1989-91. doi: 10.1093/ndt/gfl088. Epub 2006 Mar 7.
• [151] Identification and expression analysis of novel Jakmip1 transcripts.Gene. 2007 Nov 1;402(1-2):1-8. doi: 10.1016/j.gene.2007.07.001. Epub 2007 Jul 14.
• [152] Retinitis Pigmentosa: over-expression of anti-ageing protein Klotho in degenerating photoreceptors.J Neurochem. 2013 Dec;127(6):868-79. doi: 10.1111/jnc.12353. Epub 2013 Jul 22.
• [153] Targeting and silencing of rhodopsin by ectopic expression of the transcription factor KLF15.JCI Insight. 2017 Dec 21;2(24):e96560. doi: 10.1172/jci.insight.96560.
• [154] Small molecule Photoregulin3 prevents retinal degeneration in the Rho(P23H) mouse model of retinitis pigmentosa.Elife. 2017 Nov 17;6:e30577. doi: 10.7554/eLife.30577.
• [155] Molecular screening of the LPCAT1 gene in patients with retinitis pigmentosa without defined mutations in known retinitis pigmentosa genes.Mol Med Rep. 2015 Oct;12(4):5983-8. doi: 10.3892/mmr.2015.4204. Epub 2015 Aug 10.
• [156] Ultra high throughput sequencing excludes MDH1 as candidate gene for RP28-linked retinitis pigmentosa.Mol Vis. 2009 Dec 8;15:2627-33.
• [157] Epigenetic silencing of MEIS2 in prostate cancer recurrence.Clin Epigenetics. 2019 Oct 22;11(1):147. doi: 10.1186/s13148-019-0742-x.
• [158] Posterior microphthalmos, retinitis pigmentosa, and foveoschisis caused by a mutation in the MFRP gene: a familial study.Ophthalmic Genet. 2019 Jun;40(3):288-292. doi: 10.1080/13816810.2019.1633547. Epub 2019 Jul 2.
• [159] A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome.Mol Vis. 2016 Jan 24;22:73-81. eCollection 2016.
• [160] Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa.Gene. 2002 Sep 4;297(1-2):33-8. doi: 10.1016/s0378-1119(02)00872-7.
• [161] Whole-exome sequencing identifies rare compound heterozygous mutations in the MSTO1 gene associated with cerebellar ataxia and myopathy.Eur J Med Genet. 2020 Jan;63(1):103623. doi: 10.1016/j.ejmg.2019.01.013. Epub 2019 Jan 24.
• [162] Hemin supports the survival of photoreceptors injured by N-Methyl-N-nitrosourea: The contributory role of neuroglobin in photoreceptor degeneration.Brain Res. 2018 Jan 1;1678:47-55. doi: 10.1016/j.brainres.2017.10.007. Epub 2017 Oct 13.
• [163] Quantitative Comparison of Near-infrared Versus Short-wave Autofluorescence Imaging in Monitoring Progression of Retinitis Pigmentosa.Am J Ophthalmol. 2018 Oct;194:120-125. doi: 10.1016/j.ajo.2018.07.012. Epub 2018 Jul 24.
• [164] Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. Am J Hum Genet. 2008 Apr;82(4):959-70. doi: 10.1016/j.ajhg.2008.02.017. Epub 2008 Mar 27.
• [165] Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations.Proc Natl Acad Sci U S A. 2005 Dec 20;102(51):18520-5. doi: 10.1073/pnas.0505774102. Epub 2005 Dec 9.
• [166] Continued exploration and tail approach synthesis of benzenesulfonamides containing triazole and dual triazole moieties as carbonic anhydrase I, II, IV and IX inhibitors.Eur J Med Chem. 2019 Dec 1;183:111698. doi: 10.1016/j.ejmech.2019.111698. Epub 2019 Sep 12.
• [167] Localization of CSNBX (CSNB4) between the retinitis pigmentosa loci RP2 and RP3 on proximal Xp.Invest Ophthalmol Vis Sci. 1997 Dec;38(13):2750-5.
• [168] Cannabinoid-mediated retinal rescue correlates with improved circadian parameters in retinal dystrophic rats.Exp Eye Res. 2019 Mar;180:192-199. doi: 10.1016/j.exer.2018.12.022. Epub 2018 Dec 31.
• [169] Otx2-Genetically Modified Retinal Pigment Epithelial Cells Rescue Photoreceptors after Transplantation.Mol Ther. 2018 Jan 3;26(1):219-237. doi: 10.1016/j.ymthe.2017.09.007. Epub 2017 Sep 8.
• [170] Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa.Arch Iran Med. 2015 Nov;18(11):776-85.
• [171] Truncating variants in the majority of the cytoplasmic domain of PCDH15 are unlikely to cause Usher syndrome 1F.J Mol Diagn. 2014 Nov;16(6):673-8. doi: 10.1016/j.jmoldx.2014.07.001.
• [172] Mutation screening of the phosducin gene PDC in patients with retinitis pigmentosa and allied diseases.Mol Vis. 2004 Jan 26;10:62-4.
• [173] PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome. J Clin Invest. 2010 Jun;120(6):1812-23. doi: 10.1172/JCI39715. Epub 2010 May 3.
• [174] Severe early onset retinitis pigmentosa in a Moroccan patient with Heimler syndrome due to novel homozygous mutation of PEX1 gene.Eur J Med Genet. 2016 Oct;59(10):507-11. doi: 10.1016/j.ejmg.2016.09.004. Epub 2016 Sep 12.
• [175] Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7).Hum Mutat. 2004 Mar;23(3):209-18. doi: 10.1002/humu.10315.
• [176] Identification of a brain specific protein that associates with a refsum disease gene product, phytanoyl-CoA alpha-hydroxylase.Brain Res Mol Brain Res. 2000 Feb 22;75(2):237-47. doi: 10.1016/s0169-328x(99)00304-6.
• [177] Analysis of peripherin/RDS gene for Japanese retinal dystrophies.Jpn J Ophthalmol. 1998 May-Jun;42(3):186-92. doi: 10.1016/s0021-5155(97)00133-0.
• [178] Progression of retinitis pigmentosa on multimodal imaging: The PREP-1 study.Clin Exp Ophthalmol. 2019 Jul;47(5):605-613. doi: 10.1111/ceo.13458. Epub 2019 Jan 2.
• [179] Mutations in known genes account for 58% of autosomal dominant retinitis pigmentosa (adRP).Adv Exp Med Biol. 2008;613:203-9. doi: 10.1007/978-0-387-74904-4_23.
• [180] Molecular screening of rhodopsin and peripherin/RDS genes in Mexican families with autosomal dominant retinitis pigmentosa.Curr Eye Res. 2009 Dec;34(12):1050-6. doi: 10.3109/02713680903283169.
• [181] Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration.Hum Mol Genet. 2010 Sep 15;19(18):3591-8. doi: 10.1093/hmg/ddq275. Epub 2010 Jul 14.
• [182] Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination. Am J Hum Genet. 2016 Aug 4;99(2):470-80. doi: 10.1016/j.ajhg.2016.06.017.
• [183] Identification and characterization of C1orf36, a transcript highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa.Biochem Biophys Res Commun. 2003 Aug 29;308(3):414-21. doi: 10.1016/s0006-291x(03)01410-4.
• [184] Retinitis pigmentosa and bilateral cystoid macular oedema in a patient heterozygous for the RIM1 mutation previously associated with cone-rod dystrophy 7.Ophthalmic Genet. 2017 Mar-Apr;38(2):178-182. doi: 10.1080/13816810.2016.1183215. Epub 2016 May 13.
• [185] A novel start codon mutation of the MERTK gene in a patient with retinitis pigmentosa.Mol Vis. 2016 Apr 21;22:342-51. eCollection 2016.
• [186] Rpgrip1 is required for rod outer segment development and ciliary protein trafficking in zebrafish.Sci Rep. 2017 Dec 4;7(1):16881. doi: 10.1038/s41598-017-12838-x.
• [187] RRH, encoding the RPE-expressed opsin-like peropsin, is not mutated in retinitis pigmentosa and allied diseases.Ophthalmic Genet. 2007 Mar;28(1):31-7. doi: 10.1080/13816810701202052.
• [188] Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7.Sci Rep. 2016 Feb 18;6:21307. doi: 10.1038/srep21307.
• [189] Rare renal ciliopathies in non-consanguineous families that were identified by targeted resequencing.Clin Exp Nephrol. 2017 Feb;21(1):136-142. doi: 10.1007/s10157-016-1256-x. Epub 2016 Mar 11.
• [190] Genomic characterization of human SEC14L1 splice variants within a 17q25 candidate tumor suppressor gene region and identification of an unrelated embedded expressed sequence tag.Mamm Genome. 2001 Dec;12(12):925-9. doi: 10.1007/s00335-001-2073-3.
• [191] Altered expression of secreted frizzled-related protein-2 in retinitis pigmentosa retinas.Invest Ophthalmol Vis Sci. 2000 May;41(6):1297-301.
• [192] Tristetraprolin Is a Prognostic Biomarker for Poor Outcomes among Patients with Low-Grade Prostate Cancer.Cancer Epidemiol Biomarkers Prev. 2018 Nov;27(11):1376-1383. doi: 10.1158/1055-9965.EPI-18-0369. Epub 2018 Aug 14.
• [193] RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins.J Biol Chem. 2005 Sep 30;280(39):33580-7. doi: 10.1074/jbc.M505827200. Epub 2005 Jul 25.
• [194] The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR Gene.Invest Ophthalmol Vis Sci. 2018 Aug 1;59(10):4123-4133. doi: 10.1167/iovs.17-23453.
• [195] Relationships Between Serum Antioxidant and Oxidant Statuses and Visual Function in Retinitis Pigmentosa.Invest Ophthalmol Vis Sci. 2019 Oct 1;60(13):4462-4468. doi: 10.1167/iovs.19-26927.
• [196] Nonsense mutation in MERTK causes autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family.Br J Ophthalmol. 2010 Aug;94(8):1094-9. doi: 10.1136/bjo.2009.171892. Epub 2010 Jun 10.
• [197] Massive expansion of SCA2 with autonomic dysfunction, retinitis pigmentosa, and infantile spasms.Neurology. 2011 Sep 13;77(11):1055-60. doi: 10.1212/WNL.0b013e31822e5627. Epub 2011 Aug 31.
• [198] Characterization of the human TBX20 gene, a new member of the T-Box gene family closely related to the Drosophila H15 gene.Genomics. 2000 Aug 1;67(3):317-32. doi: 10.1006/geno.2000.6249.
• [199] Genetic analysis of FAM46A in Spanish families with autosomal recessive retinitis pigmentosa: characterisation of novel VNTRs.Ann Hum Genet. 2008 Jan;72(Pt 1):26-34. doi: 10.1111/j.1469-1809.2007.00393.x. Epub 2007 Sep 5.
• [200] (3R)-5,6,7-trihydroxy-3-isopropyl-3-methylisochroman-1-one ameliorates retinal degeneration in Pde6b(rd10) mice.Cutan Ocul Toxicol. 2018 Sep;37(3):245-251. doi: 10.1080/15569527.2018.1441863. Epub 2018 Mar 15.
• [201] Anterior lens epithelium in cataract patients with retinitis pigmentosa - scanning and transmission electron microscopy study.Acta Ophthalmol. 2017 May;95(3):e212-e220. doi: 10.1111/aos.13250. Epub 2016 Sep 28.
• [202] Atypical SIFD with novel TRNT1 mutations: a case study on the pathogenesis of B-cell deficiency.Int J Hematol. 2019 Apr;109(4):382-389. doi: 10.1007/s12185-019-02614-0. Epub 2019 Feb 13.
• [203] Diverse mechanisms of autophagy dysregulation and their therapeutic implications: does the shoe fit?.Autophagy. 2019 Feb;15(2):368-371. doi: 10.1080/15548627.2018.1509609. Epub 2018 Sep 13.
• [204] Endoplasmic reticulum stress in human photoreceptor diseases.Brain Res. 2016 Oct 1;1648(Pt B):538-541. doi: 10.1016/j.brainres.2016.04.021. Epub 2016 Apr 23.
• [205] Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome.Am J Med Genet A. 2005 Jan 30;132A(3):283-7. doi: 10.1002/ajmg.a.30466.
• [206] The RNA Exosome and Human Disease.Methods Mol Biol. 2020;2062:3-33. doi: 10.1007/978-1-4939-9822-7_1.
• [207] OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY IN PATIENTS WITH RETINITIS PIGMENTOSA.Retina. 2019 Jan;39(1):210-217. doi: 10.1097/IAE.000000000000190.