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Article

Prevalence Estimates and Genetic Diversity for Autosomal Dominant Retinitis Pigmentosa Due to RHO, c.68C>A (p.P23H) Variant.

American journal of ophthalmology - 1 Dec 2024

Leenders Matthijs, Gaastra Mathijs, Jayagopal Ash, Malone Karen E

Abstract excerpt

OBJECTIVE: To provide the most up-to-date clinical prevalence estimate for autosomal dominant retinitis pigmentosa (adRP) patients due to RHO c.68C>A, (p.P23H) in the United States, supported by two independent approaches; literature based meta-analysis of reported patients and population genetics modeling. DESIGN: Systematic review and meta-analysis plus population genetics modeling. METHODS: Systematic review...

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PMID: 39278389
DOI: 10.1016/j.ajo.2024.08.038

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