Abstract :
Aim: Association of ?- crystallin gene mutation with age related cataract.
Methods: Detection of ?- 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.
Keyword :
Cataract, ?- crystallin gene, mutation, CRYAA gene.