Details of Disease

Disease Name

Inherited retinal dystrophy

fundus dystrophy; inherited retinal dystrophy; genetic retinal dystrophy; hereditary retinal degeneration; hereditary retinal dystrophy; retinal dystrophy; familial retinal dystrophy

Definition

An instance of retinal degeneration that is caused by an inherited modification of the individual's genome.|Editor note: This class deliberately merges distinct concepts of RD and inherited RD in other ontologies, as we believe these the same

Disease Hierarchy

DISD715V: Hereditary neurological disease

DISM1JHQ: Retinal degeneration

DISHEDII: Perceptual disorders

DISGGL77: Inherited retinal dystrophy

Disease Identifiers

MONDO ID

MONDO_0019118

MESH ID

D058499

UMLS CUI

C0854723

MedGen ID

208903

HPO ID

HP:0000556

Orphanet ID

71862

SNOMED CT ID

314407005

General Information of Disease (ID: DISGGL77)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 25 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ASRGL1	TT4WT91	Limited	Autosomal recessive	[1]
RPGR	TTHBDA9	Limited	Biomarker	[2]
BMP4	TTD3BSX	moderate	Biomarker	[3]
CEP290	TT3XBOV	moderate	Genetic Variation	[4]
RBP4	TT0C8BY	moderate	Genetic Variation	[5]
ADH7	TT3LE7P	Strong	Genetic Variation	[6]
CNGA3	TTW0QOV	Strong	Genetic Variation	[7]
CNGB3	TT0LJCG	Strong	CausalMutation	[8]
FANCF	TTNZKFJ	Strong	Biomarker	[9]
GUCY2D	TTWNFC2	Strong	Biomarker	[10]
KIF11	TTBGTCW	Strong	Biomarker	[11]
NPTX2	TTNJ5A6	Strong	Biomarker	[12]
PNPLA6	TTWAQU2	Strong	Biomarker	[13]
PROM1	TTXMZ81	Strong	CausalMutation	[14]
RPE65	TTBOH16	Strong	Biomarker	[15]
SUCNR1	TT4FX9Y	Strong	Biomarker	[16]
TST	TT51OTS	Strong	Genetic Variation	[17]
USH2A	TTVCLLA	Strong	Biomarker	[18]
CACNA1F	TTJ0SO4	Definitive	X-linked	[1]
CACNA1F	TTJ0SO4	Definitive	Genetic Variation	[19]
IMPDH1	TT3GRLK	Definitive	Autosomal dominant	[1]
LRP5	TT7VMG4	Definitive	Autosomal recessive	[1]
MERTK	TTO7LKR	Definitive	Genetic Variation	[20]
PROM1	TTXMZ81	Definitive	Autosomal recessive	[1]
RS1	TTT2CZY	Definitive	CausalMutation	[14]
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⏷ Show the Full List of 25 DTT(s)

This Disease Is Related to 3 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
PCYT1A	DEQYXD4	moderate	Genetic Variation	[21]
NMNAT1	DE4D159	Strong	Genetic Variation	[22]
SRD5A3	DEZGVDW	Strong	Biomarker	[23]
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This Disease Is Related to 88 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ADAMTS18	OTRMFI04	Limited	Autosomal recessive	[24]
ASRGL1	OTNGNRBA	Limited	Autosomal recessive	[1]
BBS2	OTPF9JIB	Limited	Genetic Variation	[25]
CDHR1	OT1ORXCM	Limited	Genetic Variation	[25]
FAM161A	OTF5ZRYJ	Limited	CausalMutation	[25]
GUCA1B	OT85S0J3	Limited	Biomarker	[26]
RDH12	OTELFRRJ	Limited	Genetic Variation	[27]
RIMS1	OT10T7CK	Limited	Genetic Variation	[28]
CRB1	OTXYUNG0	moderate	CausalMutation	[25]
FUT5	OTOPGL9M	moderate	Biomarker	[29]
NRL	OT65MFKQ	moderate	Genetic Variation	[30]
PODNL1	OTL72ES9	moderate	Biomarker	[29]
RPGRIP1	OTABESO9	moderate	Genetic Variation	[31]
ACBD5	OT7L16DY	Strong	Genetic Variation	[32]
AHI1	OT8K2YWY	Strong	Genetic Variation	[33]
AIPL1	OT4VBD78	Strong	Genetic Variation	[34]
ALPK1	OTBW6SGD	Strong	Genetic Variation	[35]
ARL6	OTLV3SBS	Strong	Genetic Variation	[36]
ARPP21	OTWXZN5I	Strong	Genetic Variation	[37]
BRAT1	OT5ABVYX	Strong	Genetic Variation	[38]
CCDC66	OTE8VSSO	Strong	Biomarker	[39]
CFAP410	OTJ94J99	Strong	Genetic Variation	[40]
CRB2	OTG0L2CE	Strong	Genetic Variation	[41]
CRX	OTH435SV	Strong	Genetic Variation	[42]
DDHD1	OTWTHOWK	Strong	Genetic Variation	[43]
DRAM2	OTBOCZH8	Strong	Genetic Variation	[44]
DTHD1	OTW00SHB	Strong	Biomarker	[45]
EFEMP1	OTZVUOOB	Strong	Genetic Variation	[46]
GDF6	OTERXWJU	Strong	Biomarker	[47]
GNAT2	OTD9Y4UH	Strong	Genetic Variation	[7]
GNS	OTNFKYGB	Strong	Genetic Variation	[48]
GRID2	OTJ3R10R	Strong	Genetic Variation	[49]
GUCA2A	OTUSF75G	Strong	Genetic Variation	[50]
HMX1	OT65ZGE0	Strong	Genetic Variation	[51]
HSD17B6	OTSB55D2	Strong	Genetic Variation	[6]
IDH3B	OTR89YF5	Strong	Genetic Variation	[36]
IFT140	OT6KO5FH	Strong	Genetic Variation	[52]
IFT81	OTB23T17	Strong	Genetic Variation	[53]
IQCB1	OTYQ28V9	Strong	Biomarker	[54]
ITM2B	OTMXEPXB	Strong	Biomarker	[55]
KCNJ13	OTG1CNND	Strong	Genetic Variation	[56]
LRAT	OTB7CJKY	Strong	Genetic Variation	[57]
NR2E3	OTO3GBHQ	Strong	Biomarker	[58]
OTX2	OTTV05B1	Strong	Genetic Variation	[59]
PCARE	OTUSRSB5	Strong	CausalMutation	[60]
PDE6B	OTOJMB1V	Strong	Genetic Variation	[61]
POC1B	OTDIMIRZ	Strong	Genetic Variation	[62]
POC5	OTHD4FIH	Strong	Genetic Variation	[63]
PRPF31	OTSJ0Z1Y	Strong	Genetic Variation	[14]
PRPH	OT6VUH78	Strong	Biomarker	[64]
PRPS1	OTN3A6CN	Strong	Biomarker	[65]
RAX2	OT1HD6CF	Strong	Genetic Variation	[66]
RBP3	OTIWM4GT	Strong	Genetic Variation	[14]
REEP6	OTY4FPO8	Strong	Biomarker	[67]
RGR	OTKCF5AZ	Strong	Biomarker	[68]
RLBP1	OTCY4D6B	Strong	Genetic Variation	[69]
RP1	OTDDT69Y	Strong	Genetic Variation	[25]
RPE	OT0XT3JU	Strong	Genetic Variation	[70]
SLC7A14	OT07YJW4	Strong	Genetic Variation	[71]
TCP1	OT1MGUX9	Strong	Genetic Variation	[21]
TRNT1	OTD57ILL	Strong	Biomarker	[72]
ABHD12	OTDP4F02	Definitive	CausalMutation	[73]
BBS1	OTXSXB1K	Definitive	CausalMutation	[14]
BEST1	OTWHE1ZC	Definitive	Autosomal dominant	[1]
CACNA1F	OTQTXNGF	Definitive	X-linked	[1]
CACNA2D4	OTVYNX7N	Definitive	Autosomal recessive	[1]
CDKL5	OTGL5HRV	Definitive	CausalMutation	[14]
CERKL	OTG4YGBR	Definitive	Genetic Variation	[74]
EYS	OT0NBPL5	Definitive	CausalMutation	[14]
GPR143	OTWUA2AV	Definitive	X-linked	[1]
HGSNAT	OTXPCELL	Definitive	Genetic Variation	[75]
IMPDH1	OT6QGM5Y	Definitive	Autosomal dominant	[1]
IMPG1	OT12HBL0	Definitive	Autosomal dominant	[1]
IMPG2	OTFPSJ0T	Definitive	Autosomal recessive	[1]
KCNV2	OTLS8OU5	Definitive	Autosomal recessive	[1]
KIZ	OT5VCKSM	Definitive	Autosomal recessive	[1]
LCA5	OTQTCUWS	Definitive	CausalMutation	[76]
LRP5	OTCC4JPH	Definitive	Autosomal recessive	[1]
MAK	OTEU2G41	Definitive	Autosomal recessive	[1]
PDE6A	OTPUTR2K	Definitive	Autosomal recessive	[1]
PDE6C	OTE7EVWQ	Definitive	Autosomal recessive	[1]
PHF3	OTNOYLG9	Definitive	Genetic Variation	[14]
PROM1	OTBHV8NX	Definitive	Autosomal recessive	[1]
PRPF8	OTU39JZI	Definitive	Autosomal dominant	[1]
PRPH2	OTNH2G5H	Definitive	Semidominant	[1]
RP2	OTK050I3	Definitive	Genetic Variation	[77]
TOPORS	OT1ERFFQ	Definitive	Autosomal dominant	[1]
TTLL5	OTUKOVEM	Definitive	Autosomal recessive	[1]
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⏷ Show the Full List of 88 DOT(s)

References

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21	Disease-linked mutations in the phosphatidylcholine regulatory enzyme CCT impair enzymatic activity and fold stability.J Biol Chem. 2019 Feb 1;294(5):1490-1501. doi: 10.1074/jbc.RA118.006457. Epub 2018 Dec 17.
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23	Association of Steroid 5-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.JAMA Ophthalmol. 2017 Apr 1;135(4):339-347. doi: 10.1001/jamaophthalmol.2017.0046.
24	The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy. Orphanet J Rare Dis. 2013 Jan 28;8:16. doi: 10.1186/1750-1172-8-16.
25	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.
26	A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies.Invest Ophthalmol Vis Sci. 2005 Oct;46(10):3539-44. doi: 10.1167/iovs.05-0331.
27	PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY.Retina. 2019 Oct;39(10):2040-2052. doi: 10.1097/IAE.0000000000002242.
28	Genetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutation.J Med Genet. 2007 Jun;44(6):373-80. doi: 10.1136/jmg.2006.047407. Epub 2007 Jan 19.
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30	Oculopharyngeal Muscular Dystrophy and Inherited Retinal Dystrophy in Bukhara Jews Due to Linked Mutations in the PABPN1 and NRL Genes.Genet Test Mol Biomarkers. 2017 Jul;21(7):450-453. doi: 10.1089/gtmb.2016.0429. Epub 2017 Jun 7.
31	Canine RPGRIP1 mutation establishes cone-rod dystrophy in miniature longhaired dachshunds as a homologue of human Leber congenital amaurosis.Genomics. 2006 Sep;88(3):293-301. doi: 10.1016/j.ygeno.2006.05.004. Epub 2006 Jun 27.
32	ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism. J Med Genet. 2017 May;54(5):330-337. doi: 10.1136/jmedgenet-2016-104132. Epub 2016 Oct 31.
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34	Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors.Hum Mol Genet. 2009 Jun 15;18(12):2099-114. doi: 10.1093/hmg/ddp133. Epub 2009 Mar 19.
35	ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder. Genet Med. 2019 Sep;21(9):2103-2115. doi: 10.1038/s41436-019-0476-3. Epub 2019 Apr 10.
36	Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing.Mol Genet Genomic Med. 2020 Jan;8(1):10.1002/mgg3.1044. doi: 10.1002/mgg3.1044. Epub 2019 Nov 17.
37	MERTK mutation update in inherited retinal diseases.Hum Mutat. 2018 Jul;39(7):887-913. doi: 10.1002/humu.23431. Epub 2018 May 23.
38	Inner retinal dystrophy in a patient with biallelic sequence variants in BRAT1.Ophthalmic Genet. 2017 Dec;38(6):559-561. doi: 10.1080/13816810.2017.1290118. Epub 2017 Mar 2.
39	Genome-wide linkage and sequence analysis challenge CCDC66 as a human retinal dystrophy candidate gene and support a distinct NMNAT1-related fundus phenotype. Clin Genet. 2018 Jan;93(1):149-154. doi: 10.1111/cge.13022. Epub 2017 May 9.
40	C21orf2 is mutated in recessive early-onset retinal dystrophy with macular staphyloma and encodes a protein that localises to the photoreceptor primary cilium.Br J Ophthalmol. 2015 Dec;99(12):1725-31. doi: 10.1136/bjophthalmol-2015-307277. Epub 2015 Aug 20.
41	CRB2 acts as a modifying factor of CRB1-related retinal dystrophies in mice.Hum Mol Genet. 2014 Jul 15;23(14):3759-71. doi: 10.1093/hmg/ddu089. Epub 2014 Feb 23.
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43	Mutations in DDHD1, encoding a phospholipase A1, is a novel cause of retinopathy and neurodegeneration with brain iron accumulation.Eur J Med Genet. 2017 Dec;60(12):639-642. doi: 10.1016/j.ejmg.2017.08.015. Epub 2017 Aug 14.
44	Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene.Invest Ophthalmol Vis Sci. 2015 Dec;56(13):8083-90. doi: 10.1167/iovs.15-17604.
45	Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. Genome Res. 2013 Feb;23(2):236-47. doi: 10.1101/gr.144105.112. Epub 2012 Oct 26.
46	Malattia Leventinese/Doyne Honeycomb Retinal Dystrophy: Similarities to Age-Related Macular Degeneration and Potential Therapies.Adv Exp Med Biol. 2016;854:153-8. doi: 10.1007/978-3-319-17121-0_21.
47	Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies. Hum Mol Genet. 2013 Apr 1;22(7):1432-42. doi: 10.1093/hmg/dds560. Epub 2013 Jan 9.
48	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.
49	Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion.Genet Med. 2015 Apr;17(4):291-9. doi: 10.1038/gim.2014.95. Epub 2014 Aug 14.
50	Reanalysis of Association of Pro50Leu Substitution in Guanylate Cyclase Activating Protein-1 With Dominant Retinal Dystrophy.JAMA Ophthalmol. 2020 Feb 1;138(2):200-203. doi: 10.1001/jamaophthalmol.2019.4959.
51	Retinal dystrophy in the oculo-auricular syndrome due to HMX1 mutation.Ophthalmic Genet. 2011 Jun;32(2):114-7. doi: 10.3109/13816810.2011.562955. Epub 2011 Mar 18.
52	Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.Invest Ophthalmol Vis Sci. 2016 Mar;57(3):1053-62. doi: 10.1167/iovs.15-17976.
53	IFT81 as a Candidate Gene for Nonsyndromic Retinal Degeneration.Invest Ophthalmol Vis Sci. 2017 May 1;58(5):2483-2490. doi: 10.1167/iovs.16-19133.
54	Identification of a mutation in CNNM4 by whole exome sequencing in an Amish family and functional link between CNNM4 and IQCB1.Mol Genet Genomics. 2018 Jun;293(3):699-710. doi: 10.1007/s00438-018-1417-6. Epub 2018 Jan 10.
55	Generation of human induced pluripotent stem cell lines from a patient with ITM2B-related retinal dystrophy and a non mutated brother. Stem Cell Res. 2019 Dec;41:101625. doi: 10.1016/j.scr.2019.101625. Epub 2019 Nov 5.
56	A distinct vitreo-retinal dystrophy with early-onset cataract from recessive KCNJ13 mutations.Ophthalmic Genet. 2015 Mar;36(1):79-84. doi: 10.3109/13816810.2014.985846. Epub 2014 Dec 5.
57	Pathophysilogical mechanism and treatment strategies for Leber congenital amaurosis.Adv Exp Med Biol. 2014;801:791-6. doi: 10.1007/978-1-4614-3209-8_99.
58	Novel clinical findings in autosomal recessive NR2E3-related retinal dystrophy.Graefes Arch Clin Exp Ophthalmol. 2019 Jan;257(1):9-22. doi: 10.1007/s00417-018-4161-z. Epub 2018 Oct 15.
59	A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction.Mol Vis. 2009 Nov 21;15:2442-7.
60	Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71. Am J Hum Genet. 2010 May 14;86(5):686-95. doi: 10.1016/j.ajhg.2010.03.005. Epub 2010 Apr 15.
61	Next-generation sequencing targeted disease panel in rod-cone retinal dystrophies in Mori and Polynesian reveals novel changes and a common founder mutation.Clin Exp Ophthalmol. 2017 Dec;45(9):901-910. doi: 10.1111/ceo.12983. Epub 2017 Jun 13.
62	Knockdown of poc1b causes abnormal photoreceptor sensory cilium and vision impairment in zebrafish.Biochem Biophys Res Commun. 2015 Oct 2;465(4):651-7. doi: 10.1016/j.bbrc.2015.06.083. Epub 2015 Jul 15.
63	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.
64	Intrafamilial clinical heterogeneity associated with a novel mutation of the retinal degeneration slow/peripherin gene.Ophthalmic Res. 2007;39(5):255-9. doi: 10.1159/000108118. Epub 2007 Sep 12.
65	Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.Hum Mutat. 2018 Jan;39(1):80-91. doi: 10.1002/humu.23349. Epub 2017 Oct 17.
66	Autosomal Dominant Retinal Dystrophy With Electronegative Waveform Associated With a Novel RAX2 Mutation.JAMA Ophthalmol. 2015 Jun;133(6):653-61. doi: 10.1001/jamaophthalmol.2015.0357.
67	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.
68	Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1.Invest Ophthalmol Vis Sci. 2016 Sep 1;57(11):4806-13. doi: 10.1167/iovs.16-19687.
69	Homozygous deletion related to Alu repeats in RLBP1 causes retinitis punctata albescens.Invest Ophthalmol Vis Sci. 2006 Nov;47(11):4719-24. doi: 10.1167/iovs.05-1488.
70	Developing Cell-Based Therapies for RPE-Associated Degenerative Eye Diseases.Adv Exp Med Biol. 2019;1186:55-97. doi: 10.1007/978-3-030-28471-8_3.
71	Phenotypic variability of SLC7A14 mutations in patients with inherited retinal dystrophy.Ophthalmic Genet. 2019 Apr;40(2):118-123. doi: 10.1080/13816810.2019.1586964. Epub 2019 Mar 29.
72	Expanding the Phenotype of TRNT1-Related Immunodeficiency to Include Childhood Cataract and Inner Retinal Dysfunction.JAMA Ophthalmol. 2016 Sep 1;134(9):1049-53. doi: 10.1001/jamaophthalmol.2015.5833.
73	Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3.Orphanet J Rare Dis. 2012 Sep 2;7:59. doi: 10.1186/1750-1172-7-59.
74	A founder mutation in CERKL is a major cause of retinal dystrophy in Finland.Acta Ophthalmol. 2018 Mar;96(2):183-191. doi: 10.1111/aos.13551. Epub 2017 Oct 25.
75	Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene.Hum Mutat. 2009 Jun;30(6):918-25. doi: 10.1002/humu.20986.
76	Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.Genet Med. 2015 Apr;17(4):253-261. doi: 10.1038/gim.2014.172. Epub 2014 Nov 20.
77	X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15.Invest Ophthalmol Vis Sci. 2003 Apr;44(4):1458-63. doi: 10.1167/iovs.02-0605.