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Article

Expanding the clinical and genetic spectrum of RHO-associated retinitis pigmentosa.

Experimental biology and medicine (Maywood, N.J.) - 1 Jan 2026

Amaral Rebeca A S, Zin Olivia A, Resende Rosane G, Moraes Debora N, Salles Mariana V, Rodrigues Gabriela D, Motta Fabiana L, Sallum Juliana M F

Abstract excerpt

The majority of cases of autosomal-dominant retinitis pigmentosa (adRP) are associated with rhodopsin (RHO) variants. More than 290 pathogenic variants responsible for 25%-30% of adRP cases have been identified to date. This retrospective report focuses on RHO and RP cases in the Brazilian population. Patients with molecular confirmation of pathogenic variants in the RHO gene were included. Their clinical and...

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Identifiers

PMID: 41716464
DOI: 10.3389/ebm.2026.10893
PMCID: PMC12915326

Genes

RHO

Variants

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