ABSTRACT

Background

Classic homocystinuria (HCU), or cystathionine beta-synthase (CBS) deficiency, is a rare inborn error of methionine metabolism. Main clinical features may include skeletal and vascular manifestations, developmental delay, intellectual disability and eye disorders.

Material and methods

This is an observational and retrospective study aiming at describing eye abnormalities presented by a cohort of late-diagnosed HCU patients. Data regarding ophthalmological evaluation included visual acuity, refraction, biomicroscopy, Perkins tonometry, fundus examination, retinography, biometry, ocular ultrasound, optical coherence tomography, anterior segment photography and topography.

Results

Ten patients with HCU (20 eyes) were included. The most frequent findings were ectopia lentis(n = 20) and myopia (n = 9). Biometry, ultrasound, OCT and topography findings were available for four patients. One patient had keratoconus; one had abnormal retinal pigmentation; and two had lens surgery scars with irregular astigmatism.

Conclusions

Eye abnormalities are very frequent in late-diagnosed HCU patients. The presence of ectopia lentis should always raise the diagnostic hypothesis of HCU.

中文翻译：

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经典高胱氨酸尿症的眼部表现。

摘要

背景

经典的高胱氨酸尿症 (HCU) 或胱硫醚 β-合酶 (CBS) 缺乏症是一种罕见的蛋氨酸代谢先天性错误。主要临床特征可能包括骨骼和血管表现、发育迟缓、智力障碍和眼部疾病。

材料与方法

这是一项观察性和回顾性研究，旨在描述一组晚期诊断的 HCU 患者呈现的眼部异常。有关眼科评估的数据包括视力、屈光度、生物显微镜、Perkins 眼压测量、眼底检查、视网膜成像、生物测量、眼部超声、光学相干断层扫描、眼前节摄影和地形图。

结果

包括 10 名 HCU 患者（20 只眼）。最常见的发现是晶状体异位（n = 20）和近视（n = 9）。四名患者可获得生物测定、超声、OCT 和地形检查结果。一名患者患有圆锥角膜；一个有异常的视网膜色素沉着；和两个有不规则散光的晶状体手术疤痕。

结论

在晚期诊断的 HCU 患者中，眼睛异常非常常见。异位晶状体的存在应始终提出 HCU 的诊断假设。