Dr. Tharuni chowdary Balusu

Dr. RAJANI K., Dr. SUDHIR HEGDE, Dr.Ajay Kudva, Dr. DEVIKA P

Abstract

PURPOSE: To present a case of Ataxia Telangiectasia.

METHOD: A 16 yr old mentally challenged boy diagnosed with

ataxia telangiectasia was referred for ophthalmic evaluation

as a part of systemic/ neurologic evaluation. History of

consanguinous marriage and family history of similar

complaints was noted.

RESULTS: Ocular examination revealed telangiectatic vessels

on the bulbar conjunctiva of both eyes. Anterior and

posterior segment examination was within normal limits.

BCVA was 6/12 in the RE and 6/9 in the LE.

CONCLUSION: Diagnosis of ataxia telangiectasia allows

appropriate genetic counselling for the family