Alport Retinopathy Results from “Severe” COL4A5 Mutations and Predicts Early Renal Failure

[摘要] Background and objectives: Previous studies of X-linked Alport syndrome demonstrated that “severe” COL4A5 mutations (large deletions and rearrangements, nonsense and frame-shift mutations, and glycine substitutions in the carboxy-terminal residues) were associated with early-onset renal failure, hearing loss, and lenticonus in affected male patients. This study examined whether severe mutations also resulted in the typical perimacular dot-and-fleck retinopathy.

[学科分类] 泌尿医学

[关键词] Bone marrow necrosis;Sickle cell disease;Hyperhemolysis syndrome