[Skip to Content]
[Skip to Content Landing]
October 31, 1966

Homocystinuria and Ectopia Lentis in Negro Family

Author Affiliations

From the departments of surgery (ophthalmology), pediatrics, pathology, and biochemistry, Medical College of Georgia, Augusta.

JAMA. 1966;198(5):560-562. doi:10.1001/jama.1966.03110180104034

HOMOCYSTINURIA was reported in 1962 by Carson and Neill,1 who detected the condition in two patients while surveying mentally retarded children in Northern Ireland, and by Gerritsen et al,2 who described the syndrome in an infant with mental retardation and congenital anomalies. Since these two original reports, other cases have been added to the literature.3-7

The salient clinical features of this condition include dislocation of the lens, mental retardation, and the presence of excessive amounts of the amino acid, homocystine, in the urine. This latter finding is related to deficit of the enzyme, cystathionine synthetase, which is involved in the conversion of homocysteine to cystathionine. In the previously reported cases, the patients had fair hair and skin, blue eyes, and a malar flush. Many had thromboembolic phenomena. Several deaths have been attributed to this latter finding.8

This paper presents four Negro siblings in a family of