TY - JOUR
T1 - Ocular manifestations of ataxia-telangiectasia
AU - Farr, Arman K.
AU - Shalev, Benjamin
AU - Crawford, Thomas O.
AU - Lederman, Howard M.
AU - Winkelstein, Jerry A.
AU - Repka, Michael X.
N1 - Funding Information:
This study was supported by the A-T Children’s Project Grant, Deerfield Beach, Florida; the Heed Foundation Fellowship, Cleveland, Ohio; the Pediatric General Clinical Research Center, The Johns Hopkins Hospital, Baltimore, Maryland (RR 00052, Division of Research Resources, National Institute of Child Health and Human Development); and the Zanvyl and Isabelle Kreiger Fund, Baltimore, Maryland.
PY - 2002/12/1
Y1 - 2002/12/1
N2 - PURPOSE: To report the manifestations of ataxia-telangiectasia (A-T) on the ocular sensory and motor systems. DESIGN: A prospective observational case series. METHODS: In a single tertiary care institition, a comprehensive ophthalmologic evaluation was made of patients with A-T as part of a systemic/neurologic evaluation. Sixty-three A-T patients between the ages of 2 and 28 years were examined. RESULTS: In 58 A-T patients whose visual acuity could be measured, best-corrected visual acuity in the better eye was 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 visual acuity of the better eye was 20/31. Telangiectatic vessels were seen in the bulbar conjunctiva in 57 of 63 patients (91%) and on the skin of the face of 21 patients (33%). Twenty-four of 63 patients (38%) had strabismus. Esodeviations were the most common, seen in 15 individuals. Apraxia of horizontal gaze was observed in 19 of 63 patients (30%). Hypometric saccades were evident in 48 (76%), pursuit abnormalities in 43 (63%), and nystagmus in 18 (29%). Accommodation was deficient in the 54 patients in whom it was measured. No posterior segment vascular anomalies were detected. CONCLUSIONS: Visual acuity of 20/50 was present in 96% of the patients we examined. Telangiectatic vessels on the bulbar conjunctiva were seen in nearly every patient, though these are of no functional significance. Ocular motor abnormalities, especially strabismus, are a common finding in A-T. Poor accommodation and abnormal eye movements may lead to reading difficulty reported by patients with A-T.
AB - PURPOSE: To report the manifestations of ataxia-telangiectasia (A-T) on the ocular sensory and motor systems. DESIGN: A prospective observational case series. METHODS: In a single tertiary care institition, a comprehensive ophthalmologic evaluation was made of patients with A-T as part of a systemic/neurologic evaluation. Sixty-three A-T patients between the ages of 2 and 28 years were examined. RESULTS: In 58 A-T patients whose visual acuity could be measured, best-corrected visual acuity in the better eye was 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 visual acuity of the better eye was 20/31. Telangiectatic vessels were seen in the bulbar conjunctiva in 57 of 63 patients (91%) and on the skin of the face of 21 patients (33%). Twenty-four of 63 patients (38%) had strabismus. Esodeviations were the most common, seen in 15 individuals. Apraxia of horizontal gaze was observed in 19 of 63 patients (30%). Hypometric saccades were evident in 48 (76%), pursuit abnormalities in 43 (63%), and nystagmus in 18 (29%). Accommodation was deficient in the 54 patients in whom it was measured. No posterior segment vascular anomalies were detected. CONCLUSIONS: Visual acuity of 20/50 was present in 96% of the patients we examined. Telangiectatic vessels on the bulbar conjunctiva were seen in nearly every patient, though these are of no functional significance. Ocular motor abnormalities, especially strabismus, are a common finding in A-T. Poor accommodation and abnormal eye movements may lead to reading difficulty reported by patients with A-T.
UR - http://www.scopus.com/inward/record.url?scp=0036895717&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0036895717&partnerID=8YFLogxK
U2 - 10.1016/S0002-9394(02)01796-8
DO - 10.1016/S0002-9394(02)01796-8
M3 - Article
C2 - 12470759
AN - SCOPUS:0036895717
SN - 0002-9394
VL - 134
SP - 891
EP - 896
JO - American journal of ophthalmology
JF - American journal of ophthalmology
IS - 6
ER -