RHE Syndrome (Retino-Hepato-Endocrinologic Syndrome)
General: More common in females.
Ocular: Total color blindne 939j98j ss; thinning of retinal vessels with atrophy; optic disk pallor; poor photopic vision; progressive cone dystrophy.
Clinical: Degenerative liver disease; endocrine dysfunction; hypothyroidism; diabetes mellitus; repeated abortions or infertility; elevated blood creatine phosphokinase.
Berg K, et al. Familial syndrome of progressive cone dystrophy, degenerative liver disease and endocrine dysfunction. III. Genetic studies. Clin Genet 1978; 13:190-200.
Hansen E, et al. Familial syndrome of progressive cone dystrophy, degenerative liver disease and endocrine dysfunction. Clin Genet 1978; 13:119.
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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