| Identifier |
walsh_2016_s3_c3-2 |
| Title |
The Good, The Bad, and The Ugly - Path PPT |
| Creator |
Nathan H. Kung, Robert C. Bucelli, Gregory P. Van Stavern, MD, Associate Professor, Ophthalmology & Visual Sciences and Neurology, Washington University School of Medicine |
| Subject |
Vision Loss; Hearing Loss; Combined Vision and Hearing Loss; Mitochondrial Disorders |
| History |
A 37-year-old man with a history of hearing loss presented to the Neuro-Ophthalmology clinic in 2014 with 1 month of decreased vision in the left visual field. He also reported a period of binocular horizontal diplopia, similar in all directions of gaze, which had since resolved. Past medical history revealed progressive hearing loss since 2003, resulting in complete hearing loss by 2009. Bilateral cochlear implants restored his hearing. He took no medications and had no allergies. He had a normal neuro-developmental history. There was no family history of stroke or hypercoagulable disease, but several relatives had early hearing loss requiring the use of hearing aids. He was single and employed as an engineer. He denied any alcohol, tobacco, or drug use. His neuro-ophthalmic examination showed VA 20/25 OU with correction. He was highly myopic, with a manifest refraction of -14.25 +150 x 115 OD, and -14.75 + 050 x 045 OS. He identified 11/11 color plates OU. Pupils were 5mm OU, reactive, with no RAPD. Motility was full and alignment showed a 10 prism diopter esophoria in all cardinal directions of gaze. Saccades were normal. Anterior slit lamp examination revealed no abnormalities. Dilated fundus examination revealed myopic optic disc pallor OU. The cup to disc ratio was 0.2 OU. Both maculae were flat. The periphery showed myopic changes without angioid streaks, peripheral retinal emboli, or Gass plaques. Goldmann visual fields showed a left homonymous hemianopsia, more complete in the left eye. Head CT showed a right medial occipital hypodensity. Follow-up head CT five weeks later showed resolution of the occipital lesion, but also a new right posterior frontal hypodensity. In the setting of his profound hearing loss and recent visual symptoms, additional testing was performed. |
| Disease/Diagnosis |
MELAS due to the 1644 G->A mutation in mitochondrially encoded tRNA valine. |
| Date |
2016-02 |
| References |
1. Parikh S, Goldstein A, Koenig MK, et al, Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society, Genetics in Medicine,17(9):689-701, 2013. 2. DiMauro S, Schon EA, Carelli V, Hirano M, The Clinical Maze of Mitochondrial Neurology, Nat Rev Neurol, 9:429- 444, 2013. 3. Vodopivec I, Lobo AM, Prasad S, Ocular Inflammation in Neurorheumatic Disease, Semin Neurol, 34:444-457, 2014. 4. Hartong DT, Berson EL, Dryja TP, Retinitis Pigmentosa, Lancet 368:1795-809, 2006. 5. Draper EM, Malloy KA, Progressive Visual and Hearing Loss Secondary to Neurosyphilis, Optom Vis Sci, 89(11):e65-e67, 2012. 6. Leruez S, Milea D, Defoort S, et al, Sensorineural Hearing Loss in OPA1-linked Disorders, Brain, 136(Pt 7):e236, 2013. 7. Tayer OE, Ilan O, Tovi H, Tal Y, Cogan's Syndrome, Clinic Rev Allerg Immunol, 47:65-72, 2014. |
| Language |
eng |
| Format |
application/pdf |
| 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/index3.html |
| Publisher |
Spencer S. Eccles Health Sciences Library, University of Utah |
| Holding Institution |
Spencer S. Eccles Health Sciences Library, University of Utah, 10 N 1900 E SLC, UT 84112-6195 |
| Rights Management |
Copyright 2016. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s6j41q4q |
| Setname |
ehsl_novel_fbw |
| ID |
179325 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6j41q4q |
