Visual functions, ocular characteristics and visual quality of life in patients with homocystinuria

• Published in: Ophthalmic genetics 2024, Vol.45 (4), p.1-350
• Main Authors: Koye, Aran, Nilsson, Mattias, Epstein, David, Oscarson, Mikael, Teär Fahnehjelm, Kristina
• Format: Article
• Language: English
• Subjects: Medicin och hälsovetenskap
• ISSN: 1381-6810; 1744-5094; 1744-5094
• DOI: 10.1080/13816810.2024.2339959

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. Eighteen patients underwent ophthalmological examinations and visual quality of life questionnaires. 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 HCU manifestation, duration to HCU diagnosis was mean 13.6 years (range 2-25). Two patients had suffered ectopia lentis as HCU manifestation, HCU diagnosis was established mean 8.0 years (range 7-9) later. One patient had suffered both from thrombosis ectopia lentis prior to diagnosis. Another four patients suffered thromboembolic events before diagnosis. Median VFQ-25 composite score was 93 (68-98). 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.