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helicoid peripapillary chorioretinal degeneration

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease.
Uniprot Description Characterized by symmetrical lesions radiating from the optic disk involving the retina and the choroid.
Mondo Term and Equivalent IDs
MONDO:0007176:  helicoid peripapillary chorioretinal degeneration
DOID:0111228: 
MESH:C566236: 
Orphanet:86813: 
SCTID:724384008: 
UMLS:C1862382: