Ocular manifetation of ataxia-telangiectaia

PURPOE: To report the manifetation of ataxia-telangiectaia (A-T) on the ocular enory and motor ytem. DEIGN: A propective obervational cae erie. METHOD: In a ingle tertiary care intitition, a comprehenive ophthalmologic evaluation wa made of patient with A-T a part of a ytemic/neurologic evaluation. ixty-three A-T patient between the age of 2 and 28 year were examined. REULT: In 58 A-T patient whoe viual acuity could be meaured, bet-corrected viual acuity in the better eye wa 20/20 to 20/30 in 39 (67%), 20/40 to 20/50 in 17 (29%), and 20/60 to 20/80 in 2 (4%). The mean geometric viual acuity of the better eye wa 20/31. Telangiectatic veel were een in the bulbar conjunctiva in 57 of 63 patient (91%) and on the kin of the face of 21 patient (33%). Twenty-four of 63 patient (38%) had trabimu. Eodeviation were the mot common, een in 15 individual. Apraxia of horizontal gaze wa oberved in 19 of 63 patient (30%). Hypometric accade were evident in 48 (76%), puruit abnormalitie in 43 (63%), and nytagmu in 18 (29%). Accommodation wa deficient in the 54 patient in whom it wa meaured. No poterior egment vacular anomalie were detected. CONCLUION: Viual acuity of 20/50 wa preent in 96% of the patient we examined. Telangiectatic veel on the bulbar conjunctiva were een in nearly every patient, though thee are of no functional ignificance. Ocular motor abnormalitie, epecially trabimu, are a common finding in A-T. Poor accommodation and abnormal eye movement may lead to reading difficulty reported by patient with A-T.