Table 1 of Zhu, Mol Vis 2026; 32:70-82.

Table 1. Literature review of genes responsible for cornea plana, megalocornea, keratoconus and Brittle cornea syndrome.

Gene HGNC ID Gene MIM number location Inheritance Phenotype Disorder MIM number Reported Families
KERA HGNC:6309 603288 12q21.33 AR CNA2 217300 78
CHRDL1 HGNC:29861 300350 Xq23 XLR MGC1 309300 38
VSX1 HGNC:12723 605020 20p11.21 AD Keratoconus 1 148300 64
TUBA3D HGNC:24071 617878 2q21.1 AD Keratoconus 9 617928 3
ZNF469 HGNC:23216 612078 16q24.2 AR BCS1 229200 37
PRDM5 HGNC:9349 614161 4q27 AR BCS2 614170 24

Notes: Abbreviations: AR: autosomal recessive; XLR: X-Linked recessive; AD: autosomal dominant; CNA2: autosomal recessive cornea plana-2; MGC1: Megalocornea 1, X-linked; BCS: Brittle cornea syndrome.

Zhu, Mol Vis 2026; 32:70-82. http://www.molvis.org/molvis/v32/70

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