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Article

A Novel Heterozygous ARL3 Variant in Non-Syndromic Retinitis Pigmentosa: Clinical and Functional Characterization.

International journal of molecular sciences - 3 Mar 2026

Stellacci Emilia, Ziccardi Lucia, Bruselles Alessandro, Dell'Aquila Carmen, Mignini Luca, Niceta Marcello, Chiriatti Luigi, Carvetta Mattia, Zara Erika, Leone Alessandro, Cecchetti Serena, Coppola Simona, Parisi Vincenzo, Tartaglia Marco, Cordeddu Viviana

Abstract excerpt

Retinitis pigmentosa (RP) comprises a heterogeneous group of inherited retinal dystrophies characterized by the progressive degeneration of photoreceptors, leading to night blindness and gradual loss of peripheral vision. RP is characterized by a substantial genetic heterogeneity, with more than 85 genes implicated across autosomal dominant, autosomal recessive, and X-linked inheritance patterns. Recent studies...

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Identifiers

PMID: 41828587
DOI: 10.3390/ijms27052368
PMCID: PMC12986100

Genes

ARL3

Variants

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