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.
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-Tpatients between the ages of 2 and 28 years were examined. RESULTS: In 58 A-Tpatients 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.
Authors: L I Wallis; P D Griffiths; S J Ritchie; C A J Romanowski; G Darwent; I D Wilkinson Journal: AJNR Am J Neuroradiol Date: 2007-01 Impact factor: 3.825
Authors: Cynthia Rothblum-Oviatt; Jennifer Wright; Maureen A Lefton-Greif; Sharon A McGrath-Morrow; Thomas O Crawford; Howard M Lederman Journal: Orphanet J Rare Dis Date: 2016-11-25 Impact factor: 4.123
Authors: Julia Leemput; Christel Masson; Karine Bigot; Abdelmounaim Errachid; Anouk Dansault; Alexandra Provost; Stéphanie Gadin; Said Aoufouchi; Maurice Menasche; Marc Abitbol Journal: Mol Vis Date: 2009-02-20 Impact factor: 2.367