Details of Disease

General Information of Disease (ID: DISZG6IT)

Disease Name Pigmented paravenous retinochoroidal atrophy
Synonyms pigmented paravenous chorioretinal atrophy; PPCRA; PPRCA
Definition
Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare, commonly bilateral and symmetric retinal disease characterized by non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes and accumulation of ''bone-corpuscle'' pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision.
Disease Hierarchy
DISGGL77: Inherited retinal dystrophy
DISZG6IT: Pigmented paravenous retinochoroidal atrophy
Disease Identifiers
MONDO ID
MONDO_0008246
MESH ID
C566801
UMLS CUI
C1868310
OMIM ID
172870
MedGen ID
401413
Orphanet ID
251295
SNOMED CT ID
723450004

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
CRB1 OTXYUNG0 Supportive Autosomal dominant [1]
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References

1 Pigmented paravenous chorioretinal atrophy is associated with a mutation within the crumbs homolog 1 (CRB1) gene. Invest Ophthalmol Vis Sci. 2005 Jan;46(1):322-8. doi: 10.1167/iovs.04-0734.