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August 1958

Cataracts in Galactosemia

Author Affiliations

Los Angeles
From the Departments of Surgery (Ophthalmology) (Dr. Wilson) and Pediatrics (Dr. Donnell), University of Southern California School of Medicine and The Childrens Hospital of Los Angeles.

AMA Arch Ophthalmol. 1958;60(2):215-222. doi:10.1001/archopht.1958.00940080229005

Galactosemia is an inborn error of carbohydrate metabolism first described by von Reuss1 a half a century ago. Sporadic reports of the disorder are found in the literature since that time, and during the past decade, probably because of earlier recognition and diagnosis, such reports have appeared with increasing frequency. The occurrence of cataracts is one of the common features of the disease, and it is the purpose of this paper to give a longrange follow-up of the eye findings in a relatively large group of cases.

Clinical Findings  Clinically, infants with galactosemia appear normal at birth, but signs and symptoms appear within a few days or weeks at most. Presenting symptoms are usually vomiting, lethargy, fever, and failure to gain weight. Icterus, ascites, peripheral edema, hepatomegaly, and splenomegaly are among the physical findings.2 Cataracts and mental retardation may be recognized as early as 4 to 8 weeks

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