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?
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Recent
- New research links retinal imaging and deep learning to improved schizophrenia detection
- Eyebright Medical receives Class III Certificate from National Medical Products Administration in China for its phakic intraocular lens
- FDA accepts revised supplemental New Drug Application for IZERVAY
- Brimochol PF achieves endpoints in second phase 3 presbyopia trial
- Part B of phase 1/2 X-linked retinoschisis gene therapy trial initiated
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