Ocular manifestations of ataxia-telangiectasia☆

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Abstract

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.

Section snippets

Methods

Patients presenting to the Ataxia-Telangiectasia Clinic at Johns Hopkins Hospital were enrolled in observational case series. The patients were examined prospectively from July 1998 to June 2000. The study protocol was approved by the Joint Committee on Clinical Investigations of the Johns Hopkins University. Written informed consent was obtained from all parents or guardians and verbal assent for the examination procedures from the patients over the age of 9 years.

The diagnosis of A-T was

Results

Sixty-four patients were examined. One patient, diagnosed with both A-T and fragile X syndrome, was excluded; thus, the findings from 36 female and 27 male patients form the basis of this report (Table 1).

The median age of the patients was 9 years (mean, 10), ranging from 2 to 28 years. Best-corrected mean geometric visual acuity was 20/31 in the right eye and 20/30 in the left eye. In the 58 A-T patients in whom visual acuity could be measured, best-corrected visual acuity in the better eye

Discussion

The ocular findings of A-T can be striking. In our experience, the diagnosis is often not made until the appearance of ocular telangiectasia.4 Conjunctival telangiectatic vessels are the most constant ocular finding of A-T, though they could be confused with the vascular changes associated with chronic conjunctivitis or a carotid-cavernous fistula. Other prominent ocular signs of A-T include abnormalities in saccades, pursuits, strabismus, OKN abnormalities, nystagmus, and head thrusting

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    ☆

    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.

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