| Identifier |
walsh_2016_s3_c2-2 |
| Title |
When a WEINO Goes Blind - Path PPT |
| Creator |
Rustum Karanjia; Chiara La Morgia; Christina Liang; Carolyn Sue; Valerio Carelli; Peter A. Quiros; Alfredo A. Sadun |
| Affiliation |
(RK) (PAQ) (AAS) Department of Ophthalmology University of California at Los Angeles Los Angeles, CA; (CL (VC) UOC Clinica Neurologica, IRCCS Istituto delle Scienze Neurologiche di Bologna Bologna, Italy; (CL) (VC) Dipartimento di Scienze Biomediche e neuromotorie, Bologna, Italy; (CL) (CS) Department of Neurology, Royal Nroth Shore Hospital, St. Leonards, Australia; (CL) (CS) Department of Neurogenetics, Kolling Institute of Medical Research, Royal North Shore Hospital & University of Sydney St Leonards, Australia |
| Subject |
Diplopia; Optic Atrophy; Optic Nerve; Extraocular Muscles; Optic Neuropathy |
| History |
A 16 year old male presented to an outside center with binocular horizontal diplopia. His symptoms began approximately six months prior when he noticed difficulty reading. He was seen by an optometrist and prescribed reading glasses. His vision was 20/66 in the right eye and 20/25 in the left eye. He had previously been diagnosed with amblyopia as a child. There was no family history of ophthalmic or neurologic issues. Over the next two months he lost the ability to adduct the right eye. At the emergency department, a brain MRI revealed a large T2 high signal area involving the dorsal midbrain. He denied any visual changes at that time but OCT revealed RNFL loss temporally. He was diagnosed with bilateral internuclear ophthalmoplegia (INO) and treated with intravenous methylprednisolone for three days followed by a course of oral steroids. Despite this treatment and a course of IVIG the following month, he continued to deteriorate. He developed upbeat and downbeat nystagmus with a >50 prism diopter exotropia in primary gaze with adduction and downgaze paresis and 70% limitation of upgaze in both. At the same time he noticed a decrease in the vision of his right eye (CF OD, 20/30 OS). He was uncertain of the tempo of onset as he had been patching his right eye due to the diplopia. There was no pain on eye movements. Neurological examination was unremarkable for other focal deficits. A diagnostic procedure was performed. |
| Disease/Diagnosis |
Leber's hereditary optic neuropathy (LHON) with Leigh-like syndrome, LHON-Plus |
| Date |
2016-02 |
| References |
1. Fruham, Landsverk, Lotze, Hunter, Wangler et al., Atypical presentation of Leigh syndrome associated with a Leber hereditary optic neuropathy primary mitochondrial DNA mutation. Mol Genet Metab.103, 153-160. 2011 2. Funalot, Reynier, Vighetto, Ranoux, Bonnefont et al., Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy. Ann Neurol., 52(3), 374-377, 2002 |
| Language |
eng |
| Format |
application/pdf |
| Format Creation |
Microsoft PowerPoint |
| Type |
Text |
| Source |
48th Annual Frank Walsh Society Meeting |
| Relation is Part of |
NANOS Annual Meeting Frank B. Walsh Sessions; 2016 |
| 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 2016. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s6d53jjw |
| Setname |
ehsl_novel_fbw |
| ID |
179357 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6d53jjw |
