Bilateral ectopia lentis revealing homocystinuria

Abstract

A 9-year-old boy presented at Military Hospital Moulay Ismail, Meknes, Morocco, with decreased visual acuity bilaterally. On examination, his best-corrected visual acuity was 20/25 in each eye; his uncorrected visual acuity in each eye was −8.00 D. There was bilateral inferonasal ectopia lentis, with the appearance of a setting sun, with a few broken ciliary zonular fibers, seen as wide gaps between the stretched fibers. Serum homocysteine ​​level was 172.45 µmol/L (reference range, <10 µmol/L). The patient was diagnosed with homocystinuria and started on pyridoxine. On follow-up 1 year later, his visual acuity remained 20/25. Early diagnosis of homocystinuria is essential for preventing thromboembolism.