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Article

Asymmetric presentation with a novel RP2 gene mutation in X-Linked retinitis pigmentosa: a case report.

BMC ophthalmology - 17 May 2023

Lee Hyun Woo, Lee Eun Kyoung

Abstract excerpt

BACKGROUND: We present the detailed multimodal imaging analysis in a case of X-linked retinitis pigmentosa (XLRP) exhibiting a markedly asymmetric presentation with a novel RP2 mutation. CASE PRESENTATION: A 25-year-old woman complained of decreased vision in the right eye as well as night blindness. Her visual acuity was 20/100 (OD) and 20/20 (OS). Fundus examination revealed bone spicule pigmentation with...

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Identifiers

PMID: 37198560
DOI: 10.1186/s12886-023-02968-4
PMCID: PMC10190057

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