Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
ORPHA:488197· ICD-10 Q13.8
Definition
A rare, genetic retinal disorder characterized by bilateral iris coloboma, progressive retinal dystrophy and marked loss of vision, with or without congenital cataracts. Iridolenticular adhesions, scattered retinal pigmented epithelia mottling, and mild hypermetropic astigmatism may be associated.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy