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Expanded Phenotypic Spectrum of Retinopathies Associated with Autosomal Recessive and Dominant Mutations in PROM1.
Del Pozo-Valero Marta, Martin-Merida Inmaculada, Jimenez-Rolando Belen, Arteche Ana, Avila-Fernandez Almudena, Blanco-Kelly Fiona et al.
Am J OphthalmolMay 201925 citationsCase Series
This study found PROM1 gene variants cause diverse inherited retinopathies, including cone-rod dystrophy, but all patients consistently exhibited macular damage, crucial for diagnosis and understanding disease progression.