Van Cauwenbergh Caroline

🇡🇤 Ghent University Hospital

2 articles in GJC

CRB1 -associated retinal dystrophies in a Belgian cohort: genetic characteristics and long-term clinical follow-up.

Talib Mays, Van Cauwenbergh Caroline, De Zaeytijd Julie, Van Wynsberghe David, De Baere Elfride, Boon Camiel J F et al.

Br J OphthalmolFeb 202128 citationsCohort Study

CRB1 retinal dystrophies are progressive, causing early macular damage, with a potential gene therapy window before age 40 for RP and age 10 for LCA.

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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.

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Van Cauwenbergh Caroline

CRB1 -associated retinal dystrophies in a Belgian cohort: genetic characteristics and long-term clinical follow-up.

Expanded Phenotypic Spectrum of Retinopathies Associated with Autosomal Recessive and Dominant Mutations in PROM1.