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A de novo splice-site variant in the retinitis pigmentosa 2 (RP2) gene identified in a symptomatic carrier woman.

Ophthalmic genetics - 1 Apr 2026

Domoto Aya, Kuniyoshi Kazuki, Suga Akiko, Mizobuchi Kei, Yoshitake Kazutoshi, Kawai Yosuke, Omae Yosuke, Tokunaga Katsushi, Sawa Miki, Hayashi Takaaki, Mano Fukutaro, Sakamoto Masuo, Iwahashi Chiharu, Nakano Tadashi, Iwata Takeshi, Kusaka Shunji

Abstract excerpt

This report presents the clinical and genetic findings of a patient with a de novo splice-site variant in the retinitis pigmentosa 2 (RP2) gene.A 32-year-old Japanese woman was experiencing night blindness and reduced visual acuity since her twenties. Her parents were not consanguineous, and she had no family history of ocular disease. Fundus examination revealed irregular-shaped degeneration and fundus...

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Identifiers

PMID: 41403104
DOI: 10.1080/13816810.2025.2591144

Genes

RP2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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A de novo splice-site variant in the retinitis pigmentosa 2 (RP2) gene identified in a symptomatic carrier woman.PMID 41403104Read ↗

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