Ocular manifestations of ataxia-telangiectasia

Arman K. Farr, Benjamin Shalev, Thomas Owen Crawford, Howard M Lederman, Jerry A. Winkelstein, Michael X Repka

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)891-896
Number of pages6
JournalAmerican Journal of Ophthalmology
Volume134
Issue number6
DOIs
StatePublished - Dec 1 2002

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Eye Manifestations
Ataxia Telangiectasia
Visual Acuity
Conjunctiva
Strabismus
Eye Abnormalities
Esotropia
Apraxias
Saccades
Dyskinesias
Tertiary Healthcare
Eye Movements
Nervous System

ASJC Scopus subject areas

  • Ophthalmology

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Ocular manifestations of ataxia-telangiectasia. / Farr, Arman K.; Shalev, Benjamin; Crawford, Thomas Owen; Lederman, Howard M; Winkelstein, Jerry A.; Repka, Michael X.

In: American Journal of Ophthalmology, Vol. 134, No. 6, 01.12.2002, p. 891-896.

Research output: Contribution to journalArticle

Farr, Arman K. ; Shalev, Benjamin ; Crawford, Thomas Owen ; Lederman, Howard M ; Winkelstein, Jerry A. ; Repka, Michael X. / Ocular manifestations of ataxia-telangiectasia. In: American Journal of Ophthalmology. 2002 ; Vol. 134, No. 6. pp. 891-896.
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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.",
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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.

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