Eye
Conjunctiva
Ataxia-telangiectasia


Topic Completed: 1 March 2013

Revised: 25 September 2019

Copyright: 2004-2019, PathologyOutlines.com, Inc.

PubMed Search: Ataxia-telangiectasia [title] eye

Deepali Jain, M.D.
Page views in 2018: 175
Page views in 2019 to date: 208
Cite this page: Jain D. Conjunctiva: ataxia-telangiectasia. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/eyeataxia.html. Accessed December 12th, 2019.
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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Immunohistochemical
staining of conjunctival
biopsies
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