DR. DHRUV GOYAL

Dr. SHIVANAND BUBANALE, DR. MITALI MANGOLI, DR. EESHITA JAIN

Abstract

Homocystinuria is an autosomal recessive inborn error of metabolism, with a prevalence of one in 3 lakh births. It results in the inability to breakdown homocysteine to cystathione. Ophthalmologically, the characteristic findings are diminution of vision,lens subluxation, progressive myopia and retinal detachment.

A 14 year old girl, ectomorphic in built, with disproportionately long limbs, presented with complaints of diminution of distant vision in both eyes since 7 years, with visual acuity OD 6/24, OS 6/24. Anterior segment (AS) examination shows B/L nasal subluxation of lens. Based on her skeletal make and AS findings, on further probing, Steinberg sign and thumb sign was positive. Blood investigations revealed high homocysteine levels (35.65mcmol/L). She underwent BE phacoemulsification with clear lens extraction, OD was left aphakic and SFIOL was implanted OS. Post-op VA OD 6/36,OS 6/18. Due to development of Amblyopia Vision couldn’t be improved in operated eye.