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Author

Gallo Biancamaria

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Aug 2026

Intrafamilial phenotypic variability in CRX-associated retinopathy due to a frameshift variant (c.661del).

PURPOSE We report the detailed ophthalmological evaluation of two affected members of the same family (mother and son) carrying the heterozygous pathogenic CRX frameshift variant (NM_000554.6:c.661del; p. Tyr221Thrfs *9), both presenting with photophobia and photopsia but exhibiting markedly different clinical manifest...

Serra Luigi, Gallo Biancamaria, Karali Marianthi et al. · 0 citations

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