Ophthalmic Consultants of Long Island, Rockville Centre, NY.
Nassau University Medical Center, East Meadow, NY; and.
Cornea. 2024 Dec 1;43(12):1578-1580. doi: 10.1097/ICO.0000000000003587. Epub 2024 Jun 18.
To report the association of Pseudofilariasis as a presenting sign of Alkaptonuria.
Case Report.
A 49-year-old Indian man was referred because of wormlike objects in his left conjunctiva. Ocular and family history was non-contributory. He had not been to India in 15 years. Past medical history revealed hypertension, hypercholesterolemia, arthritis, and a myocardial infarct. He had undergone two stents, bilateral Achilles tendon repairs and bilateral knee replacements. ROS showed longstanding back stiffness and pain. On ocular examination the vision was 20/25 in each eye and positive findings were in the left eye bulbar conjunctival which showed stationary black vermiform (filarial in appearance) foreign bodies along with 2 small corneal limbal pigmented deposits. Conjunctival biopsy showed dilated lymph channels with interstitial proteinaceous material of a light brown color consistent with Ochronotic pigment; hence diagnostic of Alkaptonuria.
Pseudofilariasis may be a presenting sign of Alkaptonuria and occur years before a clinical diagnosis is made. Filariasis is always involves white worms and never black. Knowing the ophthalmic signs of this rare disease may lead to an accurate diagnosis earlier thusly avoiding unnecessary tests and examinations.
报告假性丝虫病作为尿黑酸尿症的表现之一。
病例报告。
一名 49 岁的印度男性因左眼结膜有虫样物而被转介。眼部和家族史无明显异常。他已经 15 年没有去过印度了。既往病史包括高血压、高胆固醇血症、关节炎和心肌梗死。他已经接受了两次支架植入、双侧跟腱修复和双侧膝关节置换术。ROS 显示长期背部僵硬和疼痛。眼部检查发现双眼视力均为 20/25,左眼球结膜可见静止的黑色蠕形(丝状外观)异物,伴有 2 个小角膜缘色素沉着沉积物。结膜活检显示扩张的淋巴通道,间质蛋白样物质呈浅棕色,与褐黄病色素一致;因此诊断为尿黑酸尿症。
假性丝虫病可能是尿黑酸尿症的首发表现,且在临床诊断前数年就已出现。丝虫病总是涉及白色的虫子,而不是黑色的。了解这种罕见疾病的眼部表现可能会更早地做出准确诊断,从而避免不必要的检查和化验。