Coloboma, Ocular 444f54e 444f54e 444f54e 444f54e 444f54e 444f54e 444f54e 444f54e 444f54e 444f54e 444f54e 444f54e 444f54e 444f54e 444f54e 444f54e 444f54e 444f54e 444f54e 444f54e 444f54e 444f54e 444f54e 444f54e 444f54e 444f54e 444f54e 444f54e 444f54e 444f54e 444f54e 444f54e 444f54e 267
General: Autosomal recessive; congenital or secondary to faulty closure of embryonic fissure.
Ocular: Optic nerve coloboma; retinochoroidal coloboma; orbital cysts; retinal dysplasia; retinal detachment; iris coloboma.
Clinical: White sponge nevus.
Hayasaka S, et al. Typical ocular coloboma affects three generations in one family. Ann Ophthalmol 1992; 24: 209-212.
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/.
on RA, et al. Possible autosomal recessive ocular coloboma. Am J Med Genet 1981; 9:189-l93.
Wright S, Levy IS. White sponge naevus and ocular coloboma. Arch Dis Child 1991; 66:514-516.
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