Bilateral Retinal Nerve Fiber Layer Thickening in a Middle-Aged Woman

JAMA Ophthalmol. 2024 Dec 19. doi: 10.1001/jamaophthalmol.2024.5457. Online ahead of print.
No abstract available

Plain language summary

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?