Congenital lamellar cataract in family members of an index case.

Abstract

Abstract: : Purpose: To demostrate the importance of performing an ophthalmological evaluation of any family member of a patient with a congenital cataract. Case Report. Methods: We evaluated 14 family members of a patient with congenital lamellar cataract. Results: Twenty seven year old female demonstrating a poor visual acuity since childhood, with a family history of mother and sister with congenital cataract. We found a visual acuity of 20/200, with a visual capacity of 20/30 for both eyes. Biomicroscopy revealed a bilateral whitish crystal–like opacity with sectorial radiations located at the fetal nucleus. We found 7 first degree family members affected, out of 4 generations, with a similar cataract pattern. Conclusions: It is important to perform an ophthalmological evaluation of any family member of a patient with a congenital cataract. It allows and provide an adequate monitoring, genetic counseling and early treatment when needed, avoiding any possible visual complications.

Keywords: cataract • genetics • clinical (human) or epidemiologic studies: treatment/prevention assessment/controlled clinical trials