Something to Sink Your Teeth Into…

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Identifier Walsh_2010_s3_c5_mp3
Title Something to Sink Your Teeth Into…
Creator Brodsky, Michael
Subject Nystagmus, Pathologic; Cerebral Palsy; Cerebellar Diseases; Cerebellar Ataxia; Retinitis Pigmentosa
History A 21-year old male with a previous diagnosis of cerebral palsy, hypertension and nystagmus shared by his siblings.
Clinical VA: 20/100 OD, 20/50 OS
Neuroimaging MRI
Pathology Chronic renal failure; Interstitial fibrosis and tubular atrophy
Disease/Diagnosis Joubert Syndrome
References 1. Khan et al, Ophthalmic Features of Joubert Syndrome, Ophthalmology, 115, 2286-89, 2008. 2. Adams, Awadein, Toma, The Retinal Ciliopathies, Ophthalmic Genetics, 28, 113-125, 2007. 3. Weiss et al, Eye movement abnormalities in Joubert Syndrome, Investigative Ophthalmology and Visual Science, 50, 4669-4677, 2009. 4. Keskinbora, Ocular and oculomotor findings of Joubert syndrome, J Pediatric Ophthalmol Strabismus, 45, 5-6, 2008. 5. Hildebrandt, Zhou, Nephronophthisis-associated ciliopathies, J Am Soc Nephrol, 18, 1855-1871, 2007.
Relation is Part of Case presented at the NANOS 2010 Walsh Session, March 7
Contributor Primary Brodsky, Michael
Contributor Secondary Couch, Steven
Publisher Spencer S. Eccles Health Sciences Library, University of Utah
Date 2010-03-07
Type Sound
Format image/jpeg
Source 42nd Annual Frank Walsh Society Meeting
Rights Management Copyright 2010. For further information regarding the rights to this collection, please visit:
Holding Institution North American Neuro-Ophthalmology Association. NANOS Executive Office 5841 Cedar Lake Road, Suite 204, Minneapolis, MN 55416
Collection Neuro-ophthalmology Virtual Education Library: NOVEL
Language eng
ARK ark:/87278/s63n267c
Setname ehsl_novel_fbw
Date Created 2013-04-23
Date Modified 2021-05-06
ID 179126
Reference URL
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