Details of Disease | DrugMAP

General Information of Disease (ID: DIS2LN29)

Disease Name	Reticular dystrophy of the retinal pigment epithelium
Synonyms	retinal dystrophy, reticular pigmentary, of POSTERIOR POLE; reticular dystrophy of retinal pigment epithelium
Definition	Reticular dystrophy of the retinal pigment epithelium is a patterned dystrophy of the retinal pigment epithelium, of progressive course, characterized by the presence of a bilateral hyperpigmented reticular pattern resembling a fishnet with knots, resulting in a slowly progressive loss of vision that often only becomes apparent in old age. Reticular dystrophy of the retinal pigment epithelium is sometimes associated with scleral staphyloma, choroidal neovascularization, convergent strabismus, spherophakia with myopia and luxated lenses, and partial atrophy of the iris.
Disease Hierarchy	DIST5BD5: Patterned dystrophy of the retinal pigment epithelium DIS2LN29: Reticular dystrophy of the retinal pigment epithelium
Disease Identifiers	MONDO ID MONDO_0009979 MESH ID C564844 UMLS CUI C1849407 OMIM ID 267800 MedGen ID 341448 Orphanet ID 99002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RCBTB1	OTAYELI8	Supportive	Autosomal recessive	[1]
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References

1	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.