Clinical and experimental advances in congenital and paediatric cataracts
- 27 April 2011
- journal article
- review article
- Published by The Royal Society in Philosophical Transactions B
- Vol. 366 (1568), 1234-1249
- https://doi.org/10.1098/rstb.2010.0227
Abstract
Cataracts (opacities of the lens) are frequent in the elderly, but rare in paediatric practice. Congenital cataracts (in industrialized countries) are mainly caused by mutations affecting lens development. Much of our knowledge about the underlying mechanisms of cataractogenesis has come from the genetic analysis of affected families: there are contributions from genes coding for transcription factors (such as FoxE3, Maf, Pitx3) and structural proteins such as crystallins or connexins. In addition, there are contributions from enzymes affecting sugar pathways (particularly the galactose pathway) and from a quite unexpected area: axon guidance molecules like ephrins and their receptors. Cataractous mouse lenses can be identified easily by visual inspection, and a remarkable number of mutant lines have now been characterized. Generally, most of the mouse mutants show a similar phenotype to their human counterparts; however, there are some remarkable differences. It should be noted that many mutations affect genes that are expressed not only in the lens, but also in tissues and organs outside the eye. There is increasing evidence for pleiotropic effects of these genes, and increasing consideration that cataracts may act as early and readily detectable biomarkers for a number of systemic syndromes.Keywords
This publication has 117 references indexed in Scilit:
- The cataract causing Cx50-S50P mutant inhibits Cx43 and intercellular communication in the lens epitheliumExperimental Cell Research, 2009
- Loss of ephrin-A5 function disrupts lens fiber cell packing and leads to cataractProceedings of the National Academy of Sciences of the United States of America, 2008
- Pax6 3′ deletion results in aniridia, autism and mental retardationHuman Genetics, 2008
- The orphan G protein-coupled receptor, Gpr161 , encodes the vacuolated lens locus and controls neurulation and lens developmentProceedings of the National Academy of Sciences of the United States of America, 2008
- Objectively monitored patching regimens for treatment of amblyopia: randomised trialBMJ, 2007
- Functional expression of aquaporins in embryonic, postnatal, and adult mouse lensesDevelopmental Dynamics, 2007
- Refractive outcomes after cataract surgery with primary lens implantation in infantsBritish Journal of Ophthalmology, 2006
- Glaucoma and increased central corneal thickness in aphakic and pseudophakic patients after congenital cataract surgeryBritish Journal of Ophthalmology, 2006
- Homozygous Nonsense Mutation in the FOXE3 Gene as a Cause of Congenital Primary Aphakia in HumansAmerican Journal of Human Genetics, 2006
- Long term results of primary posterior chamber intraocular lens implantation for congenital cataract in the first year of lifeBritish Journal of Ophthalmology, 2006