Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome
ORPHA:617449· ICD-10 Q13.8
Definition
A rare genetic disorder involving multiple structures of the eye, characterized by the combination of congenital aphakia and panocular anomalies including iris hypoplasia, microphthalmia, and microcornea. Other ophthalmological features may include nystagmus, glaucoma, strabismus, congenital leukocoria, anterior persistent fetal vasculature and posteriour segment anomalies (e.g. optic nerve and foveal hypoplasia, intravitreous hemorrhages). No extraocular manifestations are observed.