May 2025

OPHTHALMOLOGY

CASE REPORT: WOMAN WITH BILATERAL RETINAL NERVE FIBER LAYER THICKENING

A woman in her 40s was referred to Northwestern Medicine Ophthalmology for an asymptomatic epiretinal membrane observed in her left eye. The patient had a prior ocular history marked by amblyopia of the same eye. Notably, her medical background included chronic neuropathy, ataxia and myelopathy of unknown etiology, conditions for which she was under the care of a neurologist.
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The family history indicated consanguinity, and genetic testing revealed a homozygous variant with undetermined significance in the SACS gene and in the SLC5A7 gene.
This case highlights the intricacies of correlating ocular findings with systemic neurological symptoms, particularly in the context of potential genetic factors.
Amani Fawzi, MD, the Cyrus Tang and Lee Jampol Professor of Ophthalmology at Northwestern Medicine
Ivy Zhu, MD, Clinical Assistant Professor of Ophthalmology at Northwestern Medicine

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