Fragile X Syndrome 141j96b 141j96b 141j96b 141j96b 141j96b 141j96b 4
General: X-linked recessive; primarily affects males.
Ocular: Strabismus; nystagmus; high myopia; adult-onset glaucoma; blepharospasm; congenital optic atrophy; hyperopia; astigmatism; cataract; ptosis; corneal dystrophy.
Clinical: Mental retardation; dysmorphism; epilepsy; macroorchidism.
Harley RD, ed. Pediatric Ophthalmology, 4th ed. Philadelphia: WB Saunders, 1988.
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/.
Reiss AL, et al. Neuroanatomy of fragile X syndrome: the posterior fossa. Ann Neurol l991; 29:26-32.
Storm RL, et al. Ophthalmologic findings in the fragile X syndrome. Arch Ophthalmol 1987; 105:1099-l102.
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