TY - JOUR AU - Georgiou, Michalis AU - Ali, Naser AU - Yang, Elizabeth AU - Grewal, Parampal S. AU - Rotsos, Tryfon AU - Pontikos, Nikolas AU - Robson, Anthony G. AU - Michaelides, Michel PY - 2021 DA - 2021/03/12 TI - Extending the phenotypic spectrum of PRPF8, PRPH2, RP1 and RPGR, and the genotypic spectrum of early-onset severe retinal dystrophy JO - Orphanet Journal of Rare Diseases SP - 128 VL - 16 IS - 1 AB - To present the detailed retinal phenotype of patients with Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy (LCA/EOSRD) caused by sequence variants in four genes, either not (nā€‰=ā€‰1) or very rarely (nā€‰=ā€‰3) previously associated with the disease. SN - 1750-1172 UR - https://doi.org/10.1186/s13023-021-01759-8 DO - 10.1186/s13023-021-01759-8 ID - Georgiou2021 ER -