Ocular findings among patients with late-diagnosed or poorly controlled homocystinuria compared with a screened, well-controlled population
A Mulvihill, S Yap, M O'Keefe, PM Howard… - Journal of American …, 2001 - Elsevier
Introduction: Untreated homocystinuria (HCU) leads to systemic and ocular complications
preventable by early treatment. Methods: This study describes the ocular features in HCU
patients who had late diagnosis or were noncompliant with treatment compared with a
control group of early-diagnosed and well-controlled subjects. Results: Fourteen late-
diagnosed HCU patients with a median age at diagnosis of 4 years (range, 1.25-28 years)
were studied. Five patients were born outside of Ireland or before screening began. All 14 …
preventable by early treatment. Methods: This study describes the ocular features in HCU
patients who had late diagnosis or were noncompliant with treatment compared with a
control group of early-diagnosed and well-controlled subjects. Results: Fourteen late-
diagnosed HCU patients with a median age at diagnosis of 4 years (range, 1.25-28 years)
were studied. Five patients were born outside of Ireland or before screening began. All 14 …
