| Title |
Diagnosis of Charcot-Marie-Tooth Disease in a Patient With Decreased Vision From Optic Atrophy and No Other Neurological Symptoms |
| Creator |
Joseph A. Chacko; Paul H. Phillips; Raghu H. Ramakrishnaiah; G. Bradley Schaefer; Sami H. Uwaydat |
| Affiliation |
Jones Eye Institute (JAC, PHP, SHU), University of Arkansas for Medical Sciences (UAMS), Little Rock, Arkansas; Department of Ophthalmology (PHP), Arkansas Children's Hospital, Little Rock, Arkansas; and Departments of Radiology (RHR) and Genetics (GBS), UAMS & Arkansas Children's Hospital, Little Rock, Arkansas |
| Subject |
Charcot-Marie-Tooth Disease / complications; Charcot-Marie-Tooth Disease* / diagnosis; Humans; Optic Atrophy / diagnosis; Optic Atrophy / etiology |
| Date |
2023-12 |
| Date Digital |
2023-12 |
| References |
1. Vaphiades MS, Brodsky MC. Pediatric optic atrophy. Int Ophthalmol Clin. 2012;52:17-28, xiii. 2. Burté F, Carelli V, Chinnery PF, Yu-Wai-Man P. Disturbed mitochondrial dynamics and neurodegenerative disorders. Nat Rev Neurol. 2015;11:11-24. 3. Bombelli F, Stojkovic T, Dubourg O, Echaniz-Laguna A, Tardieu S, Larcher K, Amati- Bonneau P, Latour P, Vignal O, Cazeneuve C, Brice A, Leguern E. Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features. JAMA Neurol. 2014;71:1036-1042. 4. Voo I, Allf BE, Udar N, Silva-Garcia R, Vance J, Small KW. Hereditary motor and sensory neuropathy type VI with optic atrophy. Am J Ophthalmol. 2003;136:670-677. 5. Newman NJ, Biousse V. Hereditary optic neuropathies. Eye. 2004;18:1144-1160. |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Publication Type |
Journal Article |
| Source |
Journal of Neuro-Ophthalmology, December 2023, Volume 43, Issue 4 |
| Collection |
Neuro-Ophthalmology Virtual Education Library: Journal of Neuro-Ophthalmology Archives: https://novel.utah.edu/jno/ |
| Publisher |
Lippincott, Williams & Wilkins |
| Rights Management |
© North American Neuro-Ophthalmology Society |
| ARK |
ark:/87278/s68ye54m |
| Setname |
ehsl_novel_jno |
| ID |
2635236 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s68ye54m |
