Ocular complications in homocystinuria--early and late treated

Homocystinuria due to cystathionine-beta-synthetase deficiency is an autosomal recessive disorder of methionine metabolism with an incidence in Ireland of 1 in 52,544 births. Ocular complications in untreated patients include ectopia lentis, secondary glaucoma, optic atrophy, and retinal detachment. There are no characteristic signs or symptoms in infancy, and early detection relies on screening of newborn babies. Nineteen patients with homocystinuria were studied; 14 received dietary treatment and vitamin supplementation starting in the newborn period. Of these, none developed ectopia lentis after a mean follow-up of 8.2 years, compared with a 70% dislocation rate in untreated patients with a similar follow-up period. Ectopia lentis developed and progressed in five patients diagnosed later in life, despite tight biochemical control. The risk of ocular complications in homocystinuria can be substantially reduced in patients started on treatment within six weeks of birth.