Details of Disease

General Information of Disease (ID: DIST9GP4)

Disease Name Late-onset retinal degeneration
Synonyms pigmentary retinopathy; retinal Degeneration, late-onset, autosomal dominant; LORD; autosomal dominant late-onset retinal degeneration; late-onset retinal degeneration
Definition
Late-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease.
Disease Hierarchy
DISGGL77: Inherited retinal dystrophy
DIST9GP4: Late-onset retinal degeneration
Disease Identifiers
MONDO ID
MONDO_0011579
MESH ID
C565309
UMLS CUI
C1854065
OMIM ID
605670
MedGen ID
344198
Orphanet ID
67042
SNOMED CT ID
719431007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
NRG4 TTWAGKJ Limited Genetic Variation [1]
USH2A TTVCLLA Limited Biomarker [2]
HKDC1 TTVUI8G Strong Genetic Variation [3]
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This Disease Is Related to 6 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
AIPL1 OT4VBD78 Limited Genetic Variation [4]
GNAT1 OTK2SNJA Limited Biomarker [5]
PRPF8 OTU39JZI Limited Genetic Variation [4]
KCNJ13 OTG1CNND moderate Genetic Variation [6]
MFRP OTHY9ZA5 moderate Biomarker [7]
C1QTNF5 OTLKU5I2 Definitive Autosomal dominant [8]
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⏷ Show the Full List of 6 DOT(s)

References

1 Targeted inactivation of synaptic HRG4 (UNC119) causes dysfunction in the distal photoreceptor and slow retinal degeneration, revealing a new function.Exp Eye Res. 2007 Mar;84(3):473-85. doi: 10.1016/j.exer.2006.10.016. Epub 2006 Dec 18.
2 Usherin defects lead to early-onset retinal dysfunction in zebrafish.Exp Eye Res. 2018 Aug;173:148-159. doi: 10.1016/j.exer.2018.05.015. Epub 2018 May 16.
3 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.
4 Histopathologic-genotypic correlations in retinitis pigmentosa and allied diseases.Ophthalmic Genet. 2005 Jun;26(2):91-100. doi: 10.1080/13816810590968032.
5 A novel homozygous truncating GNAT1 mutation implicated in retinal degeneration.Br J Ophthalmol. 2016 Apr;100(4):495-500. doi: 10.1136/bjophthalmol-2015-306939. Epub 2015 Oct 15.
6 Missense variants in the conserved transmembrane M2 protein domain of KCNJ13 associated with retinovascular changes in humans and zebrafish.Exp Eye Res. 2019 Dec;189:107852. doi: 10.1016/j.exer.2019.107852. Epub 2019 Oct 21.
7 Late-onset retinal degeneration pathology due to mutations in CTRP5 is mediated through HTRA1.Aging Cell. 2019 Dec;18(6):e13011. doi: 10.1111/acel.13011. Epub 2019 Aug 5.
8 Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration. Hum Mol Genet. 2003 Oct 15;12(20):2657-67. doi: 10.1093/hmg/ddg289. Epub 2003 Aug 27.