Kruse Franziska, Keidel Leonie Franziska, Priglinger Siegfried, Luft Nikolaus, Priglinger Claudia
Department of Ophthalmology, Ludwig-Maximilians-University, Munich, Germany.
Klin Monbl Augenheilkd. 2023 Mar;240(3):260-265. doi: 10.1055/a-2020-0926. Epub 2023 Jan 25.
Nephropathic cystinosis is a rare autosomal recessive disease caused by mutations in the CTNS gene. This causes dysfunction of cystinosin, a protein that transports cystine out of lysosomes, causing cystine crystals to accumulate in cells in most organ systems. While renal complications predominate in the early forms of cystinosis, corneal crystal accumulation will inevitably manifest in all patients. The main symptoms are photophobia along with glare sensitivity and blepharospasm. In addition, corneal crystal accumulation can cause other complications, such as recurrent corneal erosions, punctate or filamentary keratopathy, and chronic dry eye. Eventually, peripheral corneal neovascularization and limbal stem cell deficiency may develop. Ophthalmologists play a key role in the early diagnosis of patients with cystinosis. This review aims to not only raise awareness of secondary complications of corneal crystal accumulation, but also to highlight current treatment options and challenges that ophthalmologists and pediatricians might face.
肾病型胱氨酸病是一种由CTNS基因突变引起的罕见常染色体隐性疾病。这会导致胱氨酸转运蛋白功能障碍，该蛋白负责将胱氨酸转运出溶酶体，从而使胱氨酸晶体在大多数器官系统的细胞中积累。虽然在胱氨酸病的早期形式中肾脏并发症最为常见，但所有患者最终都会不可避免地出现角膜晶体积累。主要症状为畏光、眩光敏感和眼睑痉挛。此外，角膜晶体积累会引发其他并发症，如复发性角膜糜烂、点状或丝状角膜病变以及慢性干眼症。最终，可能会出现周边角膜新生血管形成和角膜缘干细胞缺乏。眼科医生在胱氨酸病患者的早期诊断中起着关键作用。本综述旨在不仅提高对角膜晶体积累继发并发症的认识，还强调眼科医生和儿科医生可能面临的当前治疗选择和挑战。
