Table 4 Genes and systemic diseases associated with anterior megalophthalmos and megalocornea
From: How many challenges we may encounter in anterior megalophthalmos with white cataract: a case report
Anterior megalophthalmos | Megalocornea | ||
|---|---|---|---|
Gene | Phenotype | Gene | Phenotype |
Not Applicable | Trisomy 21 | CHRDL1 | X-linked Megalocornea |
FBN1 | Marfan’s Syndrome | SH3PXD2B | Frank-ter Haar Syndrome |
FGFR2 | Apert syndrome | NOTCH2 | Hajdu-Cheney Syndrome |
GNPTAB | Mucolipidosis Type 2 | PIK3R1 | SHORT Syndrome |
ISPD, B3GNT1, POMT1, POMT2, ISPD, FKTN, FKRP | Walker Warburg Syndrome | ZNF469 | Brittle Cornea Syndrome 1 |