microphthalmia, syndromic, type 9


microphthalmia, syndromic, type 9

A clinically heterogeneous disorder (OMIM:601186) of eye formation, ranging from unilateral microphthalmia to bilateral anophthalmia, which may be associated with pulmonary hypoplasia or aplasia.
Molecular pathology
Caused by defects of STRA6, which encodes a membrane protein involved in retinol metabolism.