LETTER TO JMG

Novel mutations in the -crystallin genes cause autosomal dominant congenital cataracts

S T Santhiya^1,2, M Shyam Manohar², D Rawlley², P Vijayalakshmi³, P Namperumalsamy³, P M Gopinath², J Löster¹, J Graw¹

¹ GSF-National Research Centre for Environment and Health, Institute of Mammalian Genetics, D-85764 Neuherberg, Germany
² Postgraduate Institute of Basic Medical Sciences, University of Madras, Taramani, Chennai-600 113, India
³ Aravind Eye Hospital and Postgraduate Institute of Ophthalmology, Madurai-625 020, India

Correspondence to:
Correspondence to:
Professor J Graw, GSF-National Research Centre for Environment and Health, Institute of Mammalian Genetics, D-85764 Neuherberg, Germany;
graw@gsf.de

Keywords: -crystallin; mutation; polymorphism; cataract

Cataract is an opacification of the eye lens that frequently results in visual impairment or blindness during infancy and early childhood.¹ An estimated 200 000 children are blind with bilateral cataract world wide and 20 000-40 000 children with developmental cataract are born each year.² In the developed nations of Europe and Northern America, national surveillance or cross sectional studies suggest a prevalence of 1-4 cases per 10 000 children.^3–6 In southern India the prevalence is higher, at approximately 6.5 cases per 10 000 children⁷ and bilateral childhood cataract accounts for about 12% of all ocular disorders registered.⁸

The lens is a unique tissue as it is separated from the surrounding fluids by the lens capsule and there is life long persistence of its cells and their proteins. The ß- and -crystallins were biochemically characterised as major lens proteins by Mörner⁹ over a century ago. They belong to a superfamily . . . [Full text of this article]

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