To the Editor:
The following information may be useful supplementation for your editorial on homocystinuria.1 The findings in 20 families, with 38 affected persons, were published in August.2 Many of the families were ascertained by screening the urine of patients with non-traumatic ectopia lentis and/or presumed Marfan syndrome. (The help of a considerable number of ophthalmologists in this on-going screening program is much appreciated.) At this writing, 30 families, containing 58 affected persons, have been detected. The following findings may be of particular interest to the ophthalmologist.As many as 40% of patients have normal intelligence (several are college graduates), and in the patients judged to be retarded the degree of retardation varies widely. Homocystinuria was first detected by the study of patients with mental retardation. Hence, the impression was created that mental retardation is an invariable feature. However, screening programs in groups of retardates have had a
McKusick VA. HOMOCYSTINURIA. Arch Ophthalmol. 1966;75(1):150–151. doi:10.1001/archopht.1966.00970050152027
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