MAC represents a spectrum of congenital ocular developmental defects that accounts for roughly 20% of childhood visual impairment. It is usually associated with other ocular abnormalities and systemic features.

Overview Microphthalmia, anophthalmia, coloboma (MAC) Congenital cataract Additional information References Overview Gene (OMIM No.) BCOR (#300485) Function of gene/protein Protein:...

Overview Congenital cataracts Microphthalmia, anophthalmia, coloboma (MAC) References Overview Gene (OMIM No.) TBC1D20 (#611663) Function of gene/protein Protein: TBC1 domain...

Overview Microphthalmia, anophthalmia, coloboma (MAC) Anterior segment dysgenesis References Overview Gene (OMIM No.) SOX2 (#184429) Function of gene/protein Maintaining pluripotency...

Overview Microphthalmia, anophthalmia, coloboma (MAC) Anterior segment dysgenesis References Overview Gene (OMIM No.) OTX2 (#600037) Function of gene/protein Vital for...

Overview Microphthalmia, anophthalmia, coloboma (MAC) References Overview Gene (OMIM No.) RAX (#601881) Function of gene/protein Vital in early eye development,...

Overview Microphthalmia, anophthalmia, coloboma (MAC) Congenital cataracts References Overview Gene (OMIM No.) VSX2 (#142993) Function of gene/protein Crucial in early...

Overview Microphthalmia, anophthalmia, coloboma (MAC) References Overview Gene (OMIM No.) STRA6 (#610745) Function of gene/protein Protein: signalling receptor and transporter...

Overview Microphthalmia, anophthalmia, coloboma (MAC) References Overview Gene (OMIM No.) RARB (#180220) Function of gene/protein Protein: retinoic acid receptor beta...

Overview Microphthalmia, anophthalmia, coloboma (MAC) Anterior segment dysgenesis Congenital cataract Additional information References Overview Gene (OMIM No.) FOXE3 (#601094) Function...