Association of α- crystallin gene mutation with Age related Cataract

Vipul Keshri Diksha Prakash, Samir Kumar, O. P. S Maurya, Abhishek Chandra, Akhtar Ali


Aim: Association of α- crystallin gene mutation with age related cataract.

Methods: Detection of α- crystallin gene mutation was done in blood samples of cataract patients using PCR followed by restriction digestion.

Results: In this study, we searched mutation in the exon-2 of CRYAA gene in 69 cases. The data revealed that although there was not a significant association of this gene mutation in the patients of age related cataract, but it showed that mutation in this gene increases the risk of age related cataract by about 5 times.

Conclusion: Cataract is a multifactorial disorder and various etiologies including UV light exposure, diabetes mellitus and genetic predisposition have been attributed to it. Recent literature shows a strong association of various genes and cataract, especially congenital cataract and posterior polar cataract. A few studies, including those from India have shown genetic predisposition of even age related cataract.

Our study showed that there was 5 times increased risk of persons developing age related cataract with this mutation.


Cataract, α- crystallin gene, mutation, CRYAA gene

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