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  • Title: Hurler/Scheie phenotype. Report of an inbred sibship with tapeto-retinal degeneration and electron-microscopie examination of the conjuctiva.
    Author: Jensen OA, Pedersen C, Schwartz M, Vestermark S, Warburg M.
    Journal: Ophthalmologica; 1978; 176(4):194-204. PubMed ID: 96404.
    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 one of the children, electron microscopy of the conjunctiva showed membrane-bound intracellular vacuoles and the electroretinogram was extinguished. The consanguinity of the parents is taken to indicate the presence of homozygosity of a mutant gene different from both the Hurler and Scheie mutants, thus rejecting the concept of a genetic compound in our patients.
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