Dr.OHM PATEL, P19477
INTRODUCTION:Homocystinuria is a rare congenital disorder having autosomal recessive inheritance.PURPOSE:To report a case of atypical presentation of ectopia lentis in homocystinuria.CASE REPORT:A 16 year old male presented with progressive diminution of vision in both eyes since 2 years.On examination BCVA was 6/12 in RE and 6/12 in LE. Slit lamp examination revealed bilateral superonasal displacement of lens.Fundus examination revealed myopic degeneration along with inferior lattice with atrophic holes in both eyes.Plasma and urine tests were confirmatory for homocystinuria. Medical management was started under guidance of physician and bilateral lensectomy with anterior vitrectomy with scleral fixated intraocular lens was done.. Post-operative recovery was uneventful with BCVA of 6/60 in RE and 6/9 in LE.CONCLUSION: Homocystinuria is characterised by multi system disorders including inferonasal subluxation of lens,but this case was rare due to superonasal subluxation of lens.
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