Helicoid peripapillary chorioretinal degeneration

Orpha code: 86813OMIM code: 108985

Definition

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
Classification

Disease

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

No additional description.

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