Retinal detachment in autosomal dominant polycystic kidney disease

摘要

Autosomal dominant polycystic kidney disease (ADPKD) is a systemic disorder resulting from mutations of polycystin genes on chromosomes 16 and 4.1 It is considered a ciliopathy—a genetic disorder that causes ciliary dysfunction and involves multiple organs, including retinal degeneration and kidney and cerebral anomalies.In this letter, we describe 3 patients with ADPKD and retinal detachment. The first, a 3 5-year-old normotensive woman with normal kidney function, experienced diminished vision in her right eye for 2 months. She had right inferior retinal detachment and refused surgery. The second, a 51-year-old man on maintenance hemodialysis therapy with controlled hypertension, had progressive painless visual loss in the left eye over 15 days. He had left total rhegmatogenous retinal detachment. After undergoing peri-tomy, scleral buckling, encirclage, and pneumoretinopexy, he experienced marginal improvement in vision. The third patient, a 47-year-old man with stage 1 hypertension and normal kidney function, had right eye visual loss for 20 days. He had right rhegmatogenous retinal detachment and lattice degeneration in both eyes. He underwent scleral buckling, cryopexy, and sulfur hexa fluoride injection into his right eye and laser photocoagula-tion to his left eye. None of these- patients had risk factors for retinal detachment.