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

: To describe the clinical and genetic features, and explore the natural history of retinopathy associated with IQCB1 variants in children and adults with retinopathy.

Source: American Journal of Ophthalmology - March 22, 2024 Category: Opthalmology Authors: Sagnik Sen, Lorenzo Fabozzi, Kaoru Fujinami, Yu Fujinami-Yokokawa, Genevieve A. Wright, Andrew Webster, Omar Mahroo, Anthony G. Robson, Michalis Georgiou, Michel Michaelides Tags: Original Articles Source Type: research