Autosomal recessive anterior segment dysgenesis

Definition

A rare anterior segment developmental anomaly without extraocular manifestations characterized by predominant iris and lens abnormalities, including iris hypoplasia, iris transillumination defects, ectropion uveae, corectopia, iridodonesis with ectopia lentis, and cataracts, with bilateral involvement. Increased intraocular pressure is absent in most patients.

Disease data

Classification

Malformation syndrome

ORPHA code

519388

OMIM code

617319

ICD10 code

Q13.8

ICD11 code

*Soruce