Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism
General: Autosomal recessive; simi 939g69j lar to Laurence-Moon-Biedl-Bardet, Alstrom, and Usher syndromes, with the difference being the absence of polydactyly.
Ocular: Nystagmus; hyperplasia and thickening of prickle cell layer to lids or comer of eyes; myopia; retinitis pigmentosa; keratoconus.
Clinical: Acanthosis nigricans; multiple keloids; gynecomastia, small testes in males; oligomenorrhea; mental retardation; deafness; hypogonadism; glucose intolerance; hyperinsulinism.
Edward JA, et al. A new familial syndrome characterized by pigmentary retinopathy, hypogonadism, mental retardation, nerve deafness and glucose intolerance. Am J Med 1976; 60:23-32.
McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.
Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.
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