Treft Syndrome
General: Autosomal dominant; usually appears by age 11 years.
Ocular: Optic atrophy; visual loss; ptosis; ophthalmoplegia.
Clinical: Hearing loss by age 14 years; myopathic changes; balance difficulty.
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/.
Treft RL, et al. Dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy: a new syndrome. Ophthalmology 1984; 91:908-915.
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