microphthalmia syndromic type 9

(redirected from anophthalmia/microphthalmia and pulmonary hypoplasia)

microphthalmia syndromic type 9

A rare, clinically heterogeneous disorder of eye formation (OMIM:601186) characterised by anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia, variably accompanied by congenital heart disease (e.g., ventricular septal defect, overriding aorta, vestigial pulmonary artery).

Molecular pathology
Defects in STRA6, which encodes a putative high-affinity cell surface receptor for the retinol-retinol-binding protein (RBP/RBP4) complex, cause syndromic microphthalmia type 9.