| Identifier |
walsh_2023_s3_c1 |
| Title |
Late Blooming Blindness |
| Creator |
Kevin Chodnicki, Collin McClelland, Allen Aksamit, Ralitza Gavrilova |
| Affiliation |
(KC) (AA) (RG) Mayo Clinic, Rochester; (KC) University of Minnesota |
| Subject |
Optic Atrophy; Afferent Visual Pathways; Magnetic Resonance Imaging (MRI); Metabolic Disease |
| Description |
A 19-year-old without significant medical or ocular history presented with gradually progressive decreased vision in both eyes over approximately 3 years, with more prominent vision limitations in the last year. He recalled seeing well in childhood, including color plates tested at school screenings. He was seen outside 3 months prior to being seen at our institution. |
| Date |
2023-03 |
| References |
1) Marelli C, Salsano E, Politi LS, and Labauge P. Spinal cord involvement in adult-onset metabolic and genetic diseases. J Neurol Neurosurg Psychiatry. 2018;0:1-8. doi:10.1136/jnnp-2018-318666 2) Strovel ET, Cowan TM, Scott AI, Wolf B, on behalf of the ACMG Biochemical Genetics Subcommittee of the Laboratory Quality Assurance Committee. Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics. Genet Med. 2017;19(10):1-10. doi:10.1038/gim.2017.84 3) Bottin L, Prud'hon S, Guey S, Giannesini C, Wolf B, et al. Biotinidase deficiency mimicking neuromyelitis optica: initially exhibiting symptoms in adulthood. Mult Scler. 2015;21 12):1604-1607. 4) Deschamps R, Savatovsky J, Vignal C, Fisselier M, Imbard A, et al. Adult-onset biotinidase deficiency: two individuals with severe, but reversible optic neuropathy. J Neurol Neurosurg Psychiatry. 2018;89:1009-1010. 5) Wolf B, Pomponio R, Norrgard K, Lott I, Baumgartner ER, et al. Delayed-onset profound biotinidase deficiency. J Pediatr. 1998;132(2):362-365. |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Source |
49th Annual North American Neuro-Ophthalmology Society Annual Meeting |
| Relation is Part of |
NANOS Annual Meeting 2023: Walsh Society Session III: "Tomorrowland" : Learning From Pediatric Neuro-Ophthalmic Disorders: https://novel.utah.edu/collection/NAM/toc/ |
| Collection |
Neuro-Ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu |
| Publisher |
North American Neuro-Ophthalmology Society |
| Holding Institution |
Spencer S. Eccles Health Sciences Library, University of Utah, 10 N 1900 E SLC, UT 84112-5890 |
| Rights Management |
Copyright 2023. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s66wgd0s |
| Setname |
ehsl_novel_nam |
| ID |
2389047 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s66wgd0s |
