Ophthalmic genetics
Reclassification of a novel NR2E3 variant as likely pathogenic: a case report of autosomal recessive RP37 in siblings.
Vincent Chen, Winston Lee, Eugene Yu-Chuan Kang, Laura Liu, Meng-Chang Hsiao, Nan-Kai Wang
Published: 202610.1080/13816810.2025.2610385
Abstract
NR2E3 is a nuclear orphan receptor essential for photoreceptor development. Variants in the NR2E3 gene are associated with autosomal recessive retinitis pigmentosa 37 (RP37) and enhanced S-cone syndrome (ESCS). We report a novel NR2E3 variant in a fa…
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