Ocular manifestations of ataxia-telangiectasia.
OBJECTIVE
To report the manifestations of ataxia-telangiectasia (A-T) on the ocular sensory and motor systems.


METHODS
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.
Farr
Arman K
AK
Wilmer Ophthalmological Institute, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21287-9028, USA.
Shalev
Benjamin
B
Crawford
Thomas O
TO
Lederman
Howard M
HM
Winkelstein
Jerry A
JA
Repka
Michael X
MX
D000293:Adolescent; D000328:Adult; D001260:Ataxia Telangiectasia / Q000150:complications*; D002648:Child; D002675:Child, Preschool; D005128:Eye Diseases / Q000209:etiology*; D005260:Female; D006801:Humans; D008297:Male; D011446:Prospective Studies; D014792:Visual Acuity