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Article

RDH5 and RLBP1-Associated Inherited Retinal Diseases: Refining the Spectrum of Stationary and Progressive Phenotypes.

American journal of ophthalmology - 1 Nov 2024

Bianco Lorenzo, Antropoli Alessio, Benadji Amine, Condroyer Christel, Antonio Aline, Navarro Julien, Sahel José-Alain, Zeitz Christina, Audo Isabelle

Abstract excerpt

PURPOSE: To investigate the clinical, functional, and imaging characteristics in patients affected by inherited retinal diseases associated with RDH5 and RLBP1 gene variants, and to report novel genotype-phenotype correlations. DESIGN: Retrospective single-center cohort study. METHODS: Twenty-two patients with molecularly confirmed RLBP1-associated retinopathy and 5 with RDH5-associated retinopathy. Medical...

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PMID: 38945349
DOI: 10.1016/j.ajo.2024.06.016

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