| Identifier |
walsh_2010_s3_c5 |
| Title |
Something to Sink Your Teeth Into… |
| Creator |
Michael Brodsky; Steven Couch |
| Affiliation |
Mayo Clinic, Rochester, MN |
| 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. |
| Pathology |
Chronic renal failure; Interstitial fibrosis and tubular atrophy |
| Disease/Diagnosis |
Joubert Syndrome |
| Clinical |
VA: 20/100 OD, 20/50 OS |
| Neuroimaging |
MRI |
| Date |
2010-03 |
| 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. |
| Language |
eng |
| Format |
image/jpeg |
| Type |
Sound |
| Source |
42nd Annual Frank Walsh Society Meeting |
| Relation is Part of |
NANOS Annual Meeting 2010 |
| Collection |
Neuro-Ophthalmology Virtual Education Library: Walsh Session Annual Meeting Archives: https://novel.utah.edu/Walsh/ |
| Publisher |
North American Neuro-Ophthalmology Society |
| Holding Institution |
Spencer S. Eccles Health Sciences Library, University of Utah |
| Rights Management |
Copyright 2010. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s63n267c |
| Setname |
ehsl_novel_fbw |
| ID |
179126 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s63n267c |
