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

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...

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Detalles Bibliográficos
Autores principales: Lee, Hyun Woo, Lee, Eun Kyoung
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10190057/
https://www.ncbi.nlm.nih.gov/pubmed/37198560
http://dx.doi.org/10.1186/s12886-023-02968-4