Helicoid peripapillary chorioretinal degeneration

Orpha code: 86813OMIM code: 108985

Definicja

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.

Disease data
Klasyfikacja

Disease

Synonimy
Atrophia areata
Atrofia miejscowa
SCRA
Zanik siatkówki i naczyniówki Sveinssona
SCRA
Sveinsson chorioretinal atrophy
Kod ORPHA
86813
Kod OMIM
108985
Kod ICD10
H31.2
Kod ICD11
-

No additional description.

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