Helicoid peripapillary chorioretinal degeneration

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Helicoid peripapillary chorioretinal degeneration

Synonyms: Atrophia areata | SCRA | Sveinsson chorioretinal atrophy

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.

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