Myopia-Ophthalmoplegia Syndrome
General: Sex-linked; characteristics seen in males 212f59c ; carried by females.
Ocular: Ptosis; myopia; complete or partial ophthalmoplegia; abnormal pupil; progressive degeneration of retina and choroid.
Clinical: Patellar reflex absent; Achilles reflex absent; spina bifida; cardiac defects; absent deep tendon reflex in carriers only.
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/.
Ortiz de Zarate JC. Recessive sex-linked inheritance of congenital external ophthalmoplegia and myopia coincident with other dysplasias. Br J Ophthalmol 1966; 50:606-607.
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