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Ataxia-telangiectasia syndrome - External and Internal Eye
Other Resources UpToDate PubMed

Ataxia-telangiectasia syndrome - External and Internal Eye

Contributors: Eric Ingerowski MD, FAAP, Brandon D. Ayres MD, Christopher Rapuano MD, Harvey A. Brown MD, Sunir J. Garg MD, Lauren Patty Daskivich MD, MSHS, Paritosh Prasad MD
Other Resources UpToDate PubMed

Synopsis

Ataxia-telangiectasia (AT), also known as Louis-Bar syndrome, is an autosomal recessive, multisystem disorder characterized by progressive neurologic impairment, cerebellar ataxia, variable immunodeficiency with susceptibility to sinopulmonary infections, impaired organ maturation, X-ray hypersensitivity, ocular and cutaneous telangiectasia, and a predisposition to malignancy. The responsible gene (ATM gene) causes defective DNA repair due to exposure to UV, gamma, and X-radiation.

The disease is reported worldwide with an estimated frequency of 1 in 100,000 births. It occurs in all races and equally in both sexes.

Death typically occurs in early or middle adolescence, usually from bronchopulmonary infection, less frequently from malignancy, or from a combination of both.

Ataxia is usually a first diagnostic hallmark, having its onset in the first years of life. Oculocutaneous telangiectasia usually has a later onset than the ataxia, typically between ages 3-6.

Codes

ICD10CM:
G11.3 – Cerebellar ataxia with defective DNA repair

SNOMEDCT:
68504005 – Ataxia-telangiectasia syndrome

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Differential Diagnosis & Pitfalls

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Last Reviewed:08/30/2022
Last Updated:08/31/2022
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Ataxia-telangiectasia syndrome - External and Internal Eye
A medical illustration showing key findings of Ataxia-telangiectasia syndrome : Ataxia, Bilateral distribution, Eye, Telangiectasia
Clinical image of Ataxia-telangiectasia syndrome - imageId=2844020. Click to open in gallery.
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