Home > E. Pathology by systems > Nervous system > Sensorial system > Eyes > cataracts
cataracts
Thursday 16 October 2003
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#
