Cataract 27

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

CRYAA, GJA8, BFSP1, CRYBB1, WFS1, MIP, CRYBB3, CRYGC, NHS, CRYGD, CRYBB2, CRYBA1, EPHA2, CRYAB, CRYBA2, FYCO1, GJA3, UNC45B, CHMP4B, SCAPER, HSF4, CFAP410, FTL, LMNA, ERCC6, MIR335, MIR34A, RNF149, ELANE, GSTO2

Drugs

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Clinical Features

Khaliq et al. (2002) studied a large 4-generation, consanguineous Pakistani family with autosomal dominant congenital progressive nuclear cataracts. All affected individuals had early onset of bilateral nuclear cataracts.

Mapping

In a consanguineous Pakistani family segregating congenital progressive nuclear cataracts, Khaliq et al. (2002) excluded all candidate genes known to be involved in the structure and function of the lens as well as all 16 known loci for autosomal dominant cataract. A whole-genome search showed linkage of cataracts in this family to chromosome 2p12. A maximum lod score of 4.05 was obtained for marker D2S2333, and the critical disease region was refined to a 9-cM interval.