Details of Disease

General Information of Disease (ID: DISG772R)

Disease Name Occult macular dystrophy
Synonyms Omd; OCMD; OMD; occult macular dystrophy
Definition
Occult macular dystrophy is a rare, genetic retinal dystrophy disease characterized by bilateral progressive decline of visual acuity, due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severly attenuated focal macular and multifocal electroretinograms.
Disease Hierarchy
DISLKKHD: Macular degeneration
DISEYSYY: Hereditary macular dystrophy
DISG772R: Occult macular dystrophy
Disease Identifiers
MONDO ID
MONDO_0013316
UMLS CUI
C3150833
OMIM ID
613587
MedGen ID
462183
HPO ID
HP:0030636
Orphanet ID
247834
SNOMED CT ID
770667002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PLXNA2 OTNNBJMQ Strong Genetic Variation [1]
RP1L1 OTRKSQWQ Definitive Autosomal dominant [2]
------------------------------------------------------------------------------------

References

1 ERG and OCT findings of a patient with a clinical diagnosis of occult macular dystrophy in a patient of Ashkenazi Jewish descent associated with a novel mutation in the gene encoding RP1L1.BMJ Case Rep. 2017 May 4;2017:bcr2016218364. doi: 10.1136/bcr-2016-218364.
2 Novel RP1L1 Variants and Genotype-Photoreceptor Microstructural Phenotype Associations in Cohort of Japanese Patients With Occult Macular Dystrophy. Invest Ophthalmol Vis Sci. 2016 Sep 1;57(11):4837-46. doi: 10.1167/iovs.16-19670.