Snowflake vitreoretinal degeneration

Orpha code: 91496OMIM code: 193230

Definicja

Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localised to a small region on chromosome 2q36.

Disease data
Klasyfikacja

Disease

Kod ORPHA
91496
Kod OMIM
193230
Kod ICD10
H35.5
Kod ICD11
-

No additional description.

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