Conclusion: Homocystinuria is a rare autosomal-recessive disorder with multiple systemic complications.Progressive myopia and ectopia lentis are common presenting signs in such patients.

高胱胺酸尿症为一少见之体染色体隐性遗传疾病，可导致多样全身并发症，其中最常以渐进性水晶体异位呈现。