Bilateral non-hereditary foveomacular and peripheral retinoschisis in a young female with electrophysiological abnormalities.
Pragati Raj, Deepika C Parameswarappa, B Poornachandra et al.
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Case in brief
A 25-year-old woman with recent left-eye visual diminution had bilateral foveal and peripheral retinoschisis on fundus examination and OCT, with schisis predominantly in the outer plexiform and outer nuclear layers and mild vitreoschisis. OCT also showed left foveal detachment. She had a history of laser refractive surgery for moderate myopia but no high myopia or family history of retinoschisis. Full-field ERG showed rod and cone dysfunction, severe rod bipolar-cell dysfunction in both eyes, and a borderline electronegative waveform in the left eye. Clinical exome sequencing found no pathogenic variants associated with the phenotype.
What made this case unusual
Despite the absence of high myopia, family history, or identified pathogenic variants, this non-hereditary presentation had ERG abnormalities—including severe rod bipolar-cell dysfunction—that can resemble hereditary retinoschisis.
Diagnostic / clinical pearl
ERG abnormalities, including bipolar-cell dysfunction, do not by themselves distinguish hereditary from non-hereditary retinoschisis; interpret them alongside clinical and genetic evaluation.