Bilateral Retinal Nerve Fiber Layer Thickening in a Middle-Aged Woman
A middle-aged Hispanic woman presented for evaluation of an asymptomatic epiretinal membrane in the left eye. She had an ocular history of amblyopia in the left eye, a medical history significant for chronic neuropathy, ataxia, and myelopathy of unknown etiology, and nystagmus on examination. Genetic testing revealed variants in the SACS and SLC5A7 genes. What is your diagnosis?
Authors
- Ivy Zhu (ORCID: https://orcid.org/0009-0004-2407-0297)
- Amani A. Fawzi (ORCID: https://orcid.org/0000-0002-9568-3558)
Institutions
- Northwestern University (US)
Publication Details
- Journal
- JAMA Ophthalmology
- Published
- 2024-12-19
- DOI
- https://doi.org/10.1001/jamaophthalmol.2024.5457
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00