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The Eye and Inborn Errors of Metabolism is another in the Birth Defects series sponsored by the National Foundation—March of Dimes. This volume records 42 papers with discussions presented at a symposium in Oxford, England, in April 1975.
As one would expect with such a broad topic, the papers are diverse with respect to disease as well as approach. Many heritable metabolic disorders affecting the eye are mentioned from at least one aspect. An incomplete list of those considered in more detail includes the mucopolysaccharidoses, the mucolipidoses, the sphingolipidoses, tyrosinemia, cystinosis, Wilson disease, fucosidosis, the dyslipoproteinemias, familial LCAT deficiency, alkaptonuria, galactosemia, mannosidosis, homocystinuria, retinal degenerations, gyrate atrophy with hyperornithinemia, albinism, sickle cell retinopathy, Menkes disease, osteogenesis imperfecta, and Lowe syndrome. Many presentations are concerned predominantly with biochemistry, histochemistry, electron microscopy, or tissue culture aspects, while some are very clinically oriented.
The papers are well written, richly illustrated, and superbly referenced.
Judisch F. The Eye and Inborn Errors of Metabolism. Arch Ophthalmol. 1976;94(12):2166. doi:10.1001/archopht.1976.03910040826020
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