Helmi Hala A, El Mansoury Jeylan, Al Hazzaa Selwa, Al Zoba Abdulaziz, Dirar Qais S
College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
Department of Ophthalmology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Am J Case Rep. 2019 Sep 4;20:1308-1313. doi: 10.12659/AJCR.916737.
BACKGROUND Infantile nephropathic cystinosis is the most common and severe variant of cystinosis, which is a rare autosomal recessive condition related to a defect in the transportation of the protein cystine resulting in its deposition in various organs. Due to the rarity of this condition, only 1 case with extensive ocular involvement has been found in the English-language literature. Here, we report a second such case to highlight the significance of early diagnosis in avoiding devastating but preventable vision loss. CASE REPORT We describe the extensive asymmetrical ocular involvement in a 22-year-old woman who had nephropathic cystinosis since childhood. Despite frequent follow up and systemic and topical cysteamine therapy, she developed ocular complications, including increased intraocular pressure, uveitis, and retinal changes with complete loss of vision in her left eye. In addition, her general condition requires a renal transplant in the near future. CONCLUSIONS Ophthalmologists should be aware of cystinosis and the sequalae of ocular involvement in this disease, despite its rarity. Identification of the earliest corneal deposits should not be overlooked, especially in the context of other systemic manifestations that are indicative of the nephropathic variant of cystinosis.
婴儿型肾病性胱氨酸病是胱氨酸病最常见且最严重的类型，胱氨酸病是一种罕见的常染色体隐性疾病，与蛋白质胱氨酸转运缺陷有关，导致其在各个器官中沉积。由于这种疾病罕见，英文文献中仅发现1例有广泛眼部受累的病例。在此，我们报告第二例此类病例，以强调早期诊断对于避免严重但可预防的视力丧失的重要性。病例报告：我们描述了一名自童年起就患有肾病性胱氨酸病的22岁女性广泛不对称的眼部受累情况。尽管进行了频繁随访以及全身和局部半胱胺治疗，但她仍出现了眼部并发症，包括眼压升高、葡萄膜炎和视网膜病变，左眼完全失明。此外，她的总体状况需要在近期进行肾移植。结论：眼科医生应了解胱氨酸病以及该疾病眼部受累的后遗症，尽管其罕见。不应忽视最早角膜沉积物的识别，尤其是在存在其他提示肾病性胱氨酸病变体的全身表现的情况下。
