Bi-allelic pathogenic variants in <i>NR2E3</i> may be associated with a subtle enhanced S-cone syndrome phenotype.
Hüther A; Sherman CL; Sumaroka A; O'Neil EC; Roman AJ; Kim R; Weber ML; Garafalo AV · 2026 · Ophthalmic genetics
WASTE classifies this as Negative / Null Result Report · AI classification, approximate
The study found no significant effect — useful as a negative control or null benchmark for your own design.
Abstract (excerpt)
Purpose To describe the phenotype of a patient with bi-allelic pathogenic variants in NR2E3 that did not result in an overt enhanced S-cone syndrome (ESCS) phenotype. Methods The patient underwent a comprehensive ophthalmic exam, imaging…
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Metadata source: Europe PMC · DOI 10.1080/13816810.2026.2635611