cataracts

Definition: Opacity of the entire lens or its parts.

Types (Examples)

 autosomal dominant cataract

Classification of mutated genes

 transcription factor mutations

• PAX6 mutations
• PITX3 mutations
• EYA1 mutations
• MAF mutations
• CHX10 mutations

 miscellaneous

• MIP mutations

 gap junction proteins

• GJA1
• GJA3
• GJA8

 structural proteins

• CRYBB1 in autosomal dominant cataract
• CRYAA
• CRYAB
• CRYBA1
• CRYBB1
• CRYBB2
• CRYGA-F

• mutations in the LIM2 gene (11917274) in dominant congenital posterior polar cataract

 chromatin-modifying protein/charged multivesicular body protein (CHMPs)

• CHMP4B (autosomal dominant cataract)

References

 Biswas S, Harris F, Dennison S, Singh J, Phoenix DA. Calpains: targets of cataract prevention? Trends Mol Med. 2004 Feb;10(2):78-84. PMID: 15102361

 Francis PJ, Berry V, Moore AT, Bhattacharya S. Lens biology: development and human cataractogenesis. Trends Genet. 1999 May;15(5):191-6. PMID: 10322486