DR. SHERINA THOMAS

Dr. POORNACHANDRA B., DR. NARESH KUMAR YADAV, Dr. ROHIT SHETTY

Abstract

Consanguineous marriages are known to raise the incidence of genetic diseases in families due to expression of genes received from common ancestors. We did a retrospective observational case study of 2500 patients between 2016 and 2021 ,with various retinal dystrophies. A detailed history and pedigree analyses followed by comprehensive eye examination and imaging was done. Mean age was 33.27 years with 67.3% males and 32.7% females. 728 (29.12%) patients underwent genetic counselling and 118 (4.7%) patients underwent genetic test. In this study group, 102 families were identified and consanguinity was seen in 46% of the members with 171 members in these families identified as affected after family screening. Incidence of consanguinity was high in retinal dystrophies which adversely affected progenies. This study proves to be useful in creating awareness about importance of family screening and genetic counselling in bringing down the morbidity in genetic disorders.

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