Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome

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.

Disease data

Classification

Disease

ORPHA code

488197

OMIM code

616722

ICD10 code

Q13.8

ICD11 code

*Soruce