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Review
. 2013 Aug;84(2):120-7.
doi: 10.1111/cge.12182. Epub 2013 Jun 10.

Genetics of human cataract

A Shiels  1 , J F Hejtmancik
Affiliations
Review

Genetics of human cataract

A Shiels et al. Clin Genet. 2013 Aug.

Abstract

The pathogenesis of inherited cataracts of all kinds recapitulates the developmental and cell biology of the lens. Just as each novel mutation provides additional information about the structural or functional biology of the affected gene, each newly identified gene provides insight into the developmental and cellular biology of the lens. The set of genes currently known to be associated with cataract is far from complete, especially for age-related cataract, and there is much additional information to be discovered through further genetic studies.

Keywords: cataract; genetics; lens; mutations.

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Figures

Fig. 1
Fig. 1
Morphological types of cataract. (a) Dense nuclear. (b) Posterior polar (slit lamp). (c) Anterior polar (slit lamp). (d) Pulverulent lamellar cataract with a cortical rider. (e). Pulverulent nuclear. (f). Posterior subcapsular. (g) Sutural cataract with a cerulean or blue dot component.
See this image and copyright information in PMC

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