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.
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
WILSON WA, DONNELL GN. Cataracts in Galactosemia. AMA Arch Ophthalmol. 1958;60(2):215-222. doi:10.1001/archopht.1958.00940080229005