Hurler/Scheie Phenotype

Publisher Website
Google Scholar
Abstract
An inbred sibship with corneal opacities and deficient .alpha.-L-iduronidase activity showed signs of a Hurler/Scheie phenotype. The children were of normal intelligence. In 1 of the children, EM of the conjunctiva showed membrane-bound intracellular vacuoles and the electroretinogram was extinguished. The consanguinity of the patients is taken to indicate the presence of homozygosity of a mutant gene different from both the Hurler and Scheie mutants, rejecting the concept of a genetic compound in the patients.