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Article

IQCB1 (NPHP5)-Retinopathy: Clinical and Genetic Characterization and Natural History.

American journal of ophthalmology - 1 Aug 2024

Sen Sagnik, Fabozzi Lorenzo, Fujinami Kaoru, Fujinami-Yokokawa Y U, Wright Genevieve A, Webster Andrew, Mahroo Omar, Robson Anthony G, Georgiou Michalis, Michaelides Michel

Abstract excerpt

PURPOSE: To describe the clinical and genetic features, and explore the natural history of retinopathy associated with IQCB1 variants in children and adults with retinopathy. DESIGN: Retrospective cohort study at a single tertiary care referral center. METHODS: The study recruited 19 patients with retinopathy, harboring likely disease-causing variants in IQCB1. Demographic data and clinical presentation, best...

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PMID: 38522724
DOI: 10.1016/j.ajo.2024.03.009

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