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Senior- Loken Syndrome? A Ciliopathy

机译:老年性综合症?纤毛病

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Senior ? Loken syndrome is a rare combination of juvenile nephronophthisis and tapeto ? retinal degeneration. The author describes two patients who presented with varying degrees of retinal dystrophy and renal insufficiency in their second decade of life. Both the patients presented with severe renal failure requiring hemodialysis. The first patient had early onset progressive retinal degeneration leading to childhood blindness whereas the second patient had asymptomatic retinitis pigmentosa. These cases are presented to highlight the spectrum of eye manifestations of Senior ? Loken syndrome. This report also stresses the need for fundus evaluation in patients with chronic kidney disease presenting in second decade of life even if asymptomatic.
机译:大四洛克综合征是少年肾病和tape鱼的罕见组合?视网膜变性。作者介绍了两名在生命的第二个十年中出现不同程度的视网膜营养不良和肾功能不全的患者。两名患者均出现严重的肾衰竭,需要进行血液透析。第一名患者有早期发作的进行性视网膜变性,导致儿童失明,而第二名患者有无症状性色素性视网膜炎。提出这些案例是为了突出老年人的眼部表现谱。洛克综合症。该报告还强调,即使无症状,在生命的第二个十年出现的慢性肾脏疾病患者也需要进行眼底评估。

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