Pamela M. Howard

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An inborn error of metabolism, homocystinuria due to cystathionine beta-synthase deficiency, results in markedly elevated levels of circulating homocysteine. Premature vascular events are the main life-threatening complication. Half of all untreated patients have a vascular event by 30 years of age. We performed a multicenter observational study to assess(More)
The pathological sequelae of untreated homocystinuria due to cystathionine β-synthase deficiency include ectopia lentis, osteoporosis, thromboembolic events and mental retardation. They occur at a significantly higher rate with poorer mental capabilities (mean IQ = 57) in the untreated pyridoxine-nonresponsive individuals. The mental capabilities of 23(More)
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(More)
PURPOSE To establish whether myopia in homocystinuria could be due to increased ocular axial length. METHODS Measurement of ocular axial length by A-scan ultrasound in eyes of homocystinuria patients. RESULTS Patients were divided into three groups. Group I, with no ocular pathology (28 eyes), had mean refractive error of -0.25 D (spherical equivalent)(More)
An inborn error of metabolism, homocystinuria due to cystathionine -synthase deficiency, results in markedly elevated levels of circulating homocysteine. Premature vascular events are the main life-threatening complication. Half of all untreated patients have a vascular event by 30 years of age. We performed a multicenter observational study to assess the(More)