Thyrocerebroretinal Syndrome (Familial Thyrocerebral Retinal Syndrome) 1
General: Autosomal recessive 111d33b ; renal, neurologic, and thyroid disease.
Ocular: Retinal hemorrhages; central vision defect; retinal edema; optic atrophy.
Clinical: Thrombocytopenia; chronic renal disease; colloid goiter.
Cutler EA, et al. Familial thyrocerebral retinal syndrome: a newly recognized disorder. Birth Defects 1978:14: 265-274.
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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