Abstract：
UNASSIGNED: Homocystinuria (HCU) is a rare metabolic disease that affects many organs, including the eyes. Aims: to assess visual functions, ocular characteristics, visual quality of life and time from the onset of ocular manifestations to HCU-diagnosis in patients with HCU.
UNASSIGNED: Eighteen patients underwent ophthalmological examinations and visual quality of life questionnaires.
UNASSIGNED: Best corrected decimal visual acuity was median 1.0 (range amaurosis - 1.3) right eye and 1.0 (range amaurosis -1.3) left eye. Five patients presented with severe myopia as first HCU manifestation, duration to HCU diagnosis was mean 13.6 years (range 2-25). Two patients had suffered ectopia lentis as first HCU manifestation, HCU diagnosis was established mean 8.0 years (range 7-9) later. One patient had suffered both from thrombosis and ectopia lentis prior to diagnosis. Another four patients suffered thromboembolic events before diagnosis. Median VFQ-25 composite score was 93 (68-98).
UNASSIGNED: The prevalence of myopia, ectopia lentis and monocular blindness was high in HCU-patients, which was reflected in their visual quality of life. Diagnosis was often delayed after the first ocular manifestation, increasing the risk of other severe non-ocular complications.
UNASSIGNED: Eighteen patients underwent ophthalmological examinations and visual quality of life questionnaires.
UNASSIGNED: Best corrected decimal visual acuity was median 1.0 (range amaurosis - 1.3) right eye and 1.0 (range amaurosis -1.3) left eye. Five patients presented with severe myopia as first HCU manifestation, duration to HCU diagnosis was mean 13.6 years (range 2-25). Two patients had suffered ectopia lentis as first HCU manifestation, HCU diagnosis was established mean 8.0 years (range 7-9) later. One patient had suffered both from thrombosis and ectopia lentis prior to diagnosis. Another four patients suffered thromboembolic events before diagnosis. Median VFQ-25 composite score was 93 (68-98).
UNASSIGNED: The prevalence of myopia, ectopia lentis and monocular blindness was high in HCU-patients, which was reflected in their visual quality of life. Diagnosis was often delayed after the first ocular manifestation, increasing the risk of other severe non-ocular complications.
摘要：
■同型半胱氨酸尿症（HCU）是一种罕见的代谢疾病，会影响许多器官，包括眼睛。目的：评估视觉功能，眼部特征,HCU患者的视觉生活质量和从眼部表现发作到HCU诊断的时间。
■18例患者接受了眼科检查和视觉生活质量问卷。
■最佳校正小数点视力是中位1.0（范围黑蒙-1.3）右眼和1.0（范围黑蒙-1.3）左眼。5例患者以严重近视为首发表现，至HCU诊断的持续时间平均为13.6年(范围2-25年).两名患者首次表现为HCU表现，HCU诊断在平均8.0年（范围7-9）后确定。一名患者在诊断前患有血栓形成和外翻。另外4例患者在诊断前发生血栓栓塞事件。VFQ-25综合评分中位数为93(68-98)。
■近视的患病率，HCU患者的扁桃体异位和单眼失明率很高，这反映在他们的视觉生活质量上。诊断通常在第一次眼部表现后延迟，增加其他严重非眼部并发症的风险。
■18例患者接受了眼科检查和视觉生活质量问卷。
■最佳校正小数点视力是中位1.0（范围黑蒙-1.3）右眼和1.0（范围黑蒙-1.3）左眼。5例患者以严重近视为首发表现，至HCU诊断的持续时间平均为13.6年(范围2-25年).两名患者首次表现为HCU表现，HCU诊断在平均8.0年（范围7-9）后确定。一名患者在诊断前患有血栓形成和外翻。另外4例患者在诊断前发生血栓栓塞事件。VFQ-25综合评分中位数为93(68-98)。
■近视的患病率，HCU患者的扁桃体异位和单眼失明率很高，这反映在他们的视觉生活质量上。诊断通常在第一次眼部表现后延迟，增加其他严重非眼部并发症的风险。
