Blika S, Saunte E, Lunde H, Gjessing L R, Ringvold A
Acta Ophthalmol (Copenh). 1982 Dec;60(6):894-906. doi: 10.1111/j.1755-3768.1982.tb00620.x.
Four cases of homocystinuria with lens luxation have been examined. As judged from the plasma amino acid pattern, they all responded well on pyridoxine treatment. Two of them discontinued the treatment on their own, and one of these died at the age of 17 years. The lens luxation progressed in one case despite adequate treatment. Scanning electron microscopy of one lens revealed partly broken zonules, abnormal zonular attachment, and a spongy appearance of the capsule proper. Hoping that adequate treatment will reduce more serious complications such as thromboembolism in these patients, it is concluded that an early diagnosis largely depends on the ophthalmologist, who should perform the silver-nitroprusside test, specific for homocystinuria, in all patients with non traumatic lens luxation.
已对4例伴有晶状体脱位的同型胱氨酸尿症患者进行了检查。从血浆氨基酸模式判断，他们对吡哆醇治疗均反应良好。其中2例自行停止治疗，其中1例在17岁时死亡。尽管进行了充分治疗，但仍有1例晶状体脱位进展。对1只晶状体进行扫描电子显微镜检查发现，小带部分断裂、小带附着异常以及晶状体囊本身呈海绵状外观。希望充分治疗能减少这些患者发生血栓栓塞等更严重的并发症，得出的结论是，早期诊断很大程度上取决于眼科医生，他们应对所有非外伤性晶状体脱位患者进行同型胱氨酸尿症特异性的硝普盐试验。
