Details of Disease

General Information of Disease (ID: DISFDRFO)

• Disease Name: Severe early-childhood-onset retinal dystrophy
• Synonyms: Stargardt disease 1; fundus flavimaculatus; retinal dystrophy, early-onset severe; macular dystrophy with flecks, type 1; macular Degeneration, juvenile; STGD1; Stgd; Stargardt disease type 1; early-onset severe retinal dystrophy; EOSRD; SECORD
• Definition: Severe early childhood onset retinal dystrophy (SECORD) is an inherited retinal dystrophy, characterized by a severe congenital night blindness, progressive retinal dystrophy and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years. An overlap with Leber congenital amaurosis (LCA) occurs when patients are characterized by their visual acuity and panretinal dystrophy.
• Disease Hierarchy:
  DISLEON6: ABCA4-related retinopathy
  DISPXOTO: Stargardt disease
  DISFDRFO: Severe early-childhood-onset retinal dystrophy
• Disease Identifiers:
  MONDO ID: MONDO_0009549
  MESH ID: D000080362
  UMLS CUI: C1855465
  OMIM ID: 248200
  MedGen ID: 383691
  Orphanet ID: 364055

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 6 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CNGB3	TT0LJCG	Limited	Autosomal recessive	[1]
CNGB3	TT0LJCG	Limited	Genetic Variation	[1]
FANCF	TTNZKFJ	Limited	Biomarker	[2]
RPE65	TTBOH16	Supportive	Autosomal recessive	[3]
PROM1	TTXMZ81	Strong	CausalMutation	[4]
TST	TT51OTS	Definitive	Genetic Variation	[5]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ABCA4	DTM4YG0	Definitive	Autosomal recessive	[6]

This Disease Is Related to 16 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ARMS2	OTUXHJ9H	Limited	Genetic Variation	[7]
BBS1	OTXSXB1K	Limited	Genetic Variation	[8]
BEST1	OTWHE1ZC	Limited	CausalMutation	[4]
CNGB3	OTGR3KO5	Limited	Autosomal recessive	[1]
KCNV2	OTLS8OU5	Limited	CausalMutation	[4]
MYO7A	OTBZSPEL	Limited	Genetic Variation	[9]
PLXNA2	OTNNBJMQ	Limited	Biomarker	[10]
PRPH2	OTNH2G5H	Limited	Genetic Variation	[11]
LCA5	OTQTCUWS	Supportive	Autosomal recessive	[12]
LRAT	OTB7CJKY	Supportive	Autosomal recessive	[13]
RPE65	OTHS41XM	Supportive	Autosomal recessive	[3]
SPATA7	OT78G2IH	Supportive	Autosomal recessive	[14]
ELOVL4	OT2M9W26	Strong	Genetic Variation	[15]
ERG	OTOTX9VU	Strong	Biomarker	[16]
RPE	OT0XT3JU	Strong	Biomarker	[17]
ABCA4	OTMA4IG9	Definitive	Autosomal recessive	[6]

References

• [1] Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. Hum Mutat. 2005 Mar;25(3):248-58. doi: 10.1002/humu.20142.
• [2] Peripheral Visual Fields in ABCA4 Stargardt Disease and Correlation With Disease Extent on Ultra-widefield Fundus Autofluorescence.Am J Ophthalmol. 2017 Dec;184:181-188. doi: 10.1016/j.ajo.2017.10.006. Epub 2017 Oct 14.
• [3] 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.
• [4] 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.
• [5] Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus. Br J Ophthalmol. 2007 Nov;91(11):1504-11. doi: 10.1136/bjo.2007.115659. Epub 2007 May 15.
• [6] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
• [7] A subgroup of age-related macular degeneration is associated with mono-allelic sequence variants in the ABCA4 gene.Invest Ophthalmol Vis Sci. 2012 Apr 30;53(4):2112-8. doi: 10.1167/iovs.11-8785.
• [8] Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases.J Korean Med Sci. 2019 Jun 2;34(21):e161. doi: 10.3346/jkms.2019.34.e161.
• [9] Efficient gene delivery to the cone-enriched pig retina by dual AAV vectors.Gene Ther. 2014 Apr;21(4):450-6. doi: 10.1038/gt.2014.8. Epub 2014 Feb 27.
• [10] EDI OCT evaluation of choroidal thickness in Stargardt disease.PLoS One. 2018 Jan 5;13(1):e0190780. doi: 10.1371/journal.pone.0190780. eCollection 2018.
• [11] Evaluation of the ELOVL4, PRPH2 and ABCA4 genes in patients with Stargardt macular degeneration.Mol Med Rep. 2012 Nov;6(5):1045-9. doi: 10.3892/mmr.2012.1063. Epub 2012 Sep 4.
• [12] Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations. Hum Mutat. 2013 Nov;34(11):1537-1546. doi: 10.1002/humu.22398. Epub 2013 Sep 17.
• [13] Early onset retinal dystrophy due to mutations in LRAT: molecular analysis and detailed phenotypic study. Invest Ophthalmol Vis Sci. 2012 Jun 22;53(7):3927-38. doi: 10.1167/iovs.12-9548.
• [14] Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations. Invest Ophthalmol Vis Sci. 2011 May 9;52(6):3032-8. doi: 10.1167/iovs.10-7025.
• [15] Stargardt Phenotype Associated With Two ELOVL4 Promoter Variants and ELOVL4 Downregulation: New Possible Perspective to Etiopathogenesis?.Invest Ophthalmol Vis Sci. 2018 Feb 1;59(2):843-857. doi: 10.1167/iovs.17-22962.
• [16] CFH Y402H polymorphism in Italian patients with age-related macular degeneration, retinitis pigmentosa, and Stargardt disease.Ophthalmic Genet. 2018 Dec;39(6):699-705. doi: 10.1080/13816810.2018.1525753. Epub 2018 Oct 4.
• [17] Quantitative fundus autofluorescence in recessive Stargardt disease.Invest Ophthalmol Vis Sci. 2014 May 1;55(5):2841-52. doi: 10.1167/iovs.13-13624.