Abstract
BACKGROUND: Cysteine β-synthase deficiency, often known as classic homocystinuria, is an uncommon inborn mistake in methionine metabolism. Developmental delay, intellectual incapacity, skeletal and vascular symptoms, and ocular abnormalities are possible main clinical characteristics. OBJECTIVE: This study sought to describe the ocular anomalies that King Fahad Armed Forces Hospital, Jeddah, Saudi Arabia, homocystinuria patients presented with between 2018 and 2022. METHODS: This retrospective research included six homocystinuria patients. Demographic and clinical characteristics of patients as age, gender, and comorbidities were collected. Relevant clinical and ophthalmic assessments, like visual acuity, fundus examination findings, complications, and type of surgery were also reported. RESULTS: Six patients with homocystinuria (12 eyes) were included. Associated diseases were mostly mental retardation (100%), epilepsy (66.7%), developmental delay (50.0%), scoliosis (33.3%), bronchiectasis (16.7%), thrombophilia (16.7%), metabolic disorders (16.7%), and deep venous thrombosis (16.7%). All patients had ectopia lentis (100%), while one patient (16.7%) had eye ectropion, one patient (16.7%) had anterior uveitis, and one patient (16.7%) had scleromalacia. Surgery type was mostly lensectomy and vitrectomy (83.3%) then scleral fixation (16.7%), and Grice green procedure (16.7%). There were insignificant differences between first and last Autoref readings in spherical, cylinder, and axis errors of right and left eyes. CONCLUSIONS: Late-diagnosed homocystinuria patients frequently have abnormalities of the eyes. Ectopia lentis should always raise the possibility that homocystinuria is the cause of the condition.