Ophthalmic abnormalities in homocystinuria: the value of screening

Homocystinuria, a genetic metabolic abnormality, eventually causes a variety of ocular and other pathologies if not treated. To evaluate the results of screening newborns for homocystinuria, we compared ophthalmic outcomes for two groups of homocystinuria patients who had been diagnosed either at birth or later than 6 weeks.

Nineteen patients had been screened and diagnosed shortly after birth, with treatment instigated before 6 weeks of age (mean follow-up and age 10.8 years; median 11 years). Eight of 17 were myopic; 13 of 15 had good vision in both eyes; one had lens subluxation. The second group of 17 patients were diagnosed later than 6 weeks, often (12 patients) because of ocular problems (mean follow-up 8.3 years; mean age 19.4 years; median age 16 years). Visual function varied from 6/6 (4 patients) to less than 6/36 (4 patients); 3 eyes had no perception of light. Thirteen patients had lens subluxation or dislocation.

Early diagnosis and treatment of homocystinuria is advantageous.