| Autor: |
Tryfon Rotsos, Evangelia Papakonstantinou, Chrysanthos Symeonidis, Augoustinos Krassas, Smaragda Kamakari |
| Jazyk: |
angličtina |
| Rok vydání: |
2022 |
| Předmět: |
|
| Zdroj: |
American Journal of Ophthalmology Case Reports, Vol 26, Iss , Pp 101452- (2022) |
| Druh dokumentu: |
article |
| ISSN: |
2451-9936 |
| DOI: |
10.1016/j.ajoc.2022.101452 |
| Popis: |
Purpose: To present a case of two siblings with optic atrophy associated with Wolfram Syndrome. Observations: Two young adult siblings presented with serious bilateral loss of vision and dyschromatopsia established in early adolescence. They were referred with a presumed diagnosis of Leber's Hereditary Optic Neuropathy. At baseline, visual acuity was 20/400 in the right eye and 20/200 in the left eye in patient A and 20/200 in both eyes in patient B, color perception tested with pseudo-isochromatic plates was 0/17 in each eye, optic discs were pale, visual field testing revealed diffuse scotomas bilaterally while electrophysiology showed delayed prominent positive deflection (P100) values in both patients. Personal history revealed Type 1 diabetes mellitus since early childhood. Patients were lost to follow-up and presented 4 years later with significant VA decrease ( |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
|
