Author: Deepali Jain, M.D. (see Authors page)

Revised: 18 April 2018, last major update March 2013

Copyright: (c) 2004-2018, PathologyOutlines.com, Inc.

PubMed Search: Ataxia-telangiectasia [title] eye

Cite this page: Jain, D. Conjunctiva: ataxia-telangiectasia. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/eyeataxia.html. Accessed November 21st, 2018.
Definition / general
  • Autosomal recessive disease; previously called Louis-Bar syndrome
  • Characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia and recurrent respiratory and sinus infections
  • Telangiectatic blood vessels in bulbar conjunctiva in > 90% (Am J Ophthalmol 2002;134:891), mostly confined to palpebral fissures, sausage shaped aneurysmal dilatation with abrupt turns
  • Mostly visible by age 4 - 5 years, primarily within palpebral fissure (Acta Ophthalmol Scand 2007;85:557)
  • Patients develop ocular motor apraxia (Acta Ophthalmol Scand 2007;85:557)
Clinical images

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Nasal part of conjunctiva

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Telangiectasias in ear with conjunctival telangiectasias

Microscopic (histologic) images

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staining of conjunctival