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Coloboma
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===Related conditions=== Other ocular malformations that include coloboma or are related to it: * [[CHARGE syndrome]], a term that came into use as an [[acronym]] for the set of unusual congenital features seen in a number of newborn children.<ref name="Pagon">{{cite journal |vauthors=Pagon RA, Graham JM, Zonana J, Yong SL |title=Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association |journal=J. Pediatr. |volume=99 |issue=2 |pages=223β7 |year=1981 |pmid=6166737 |doi=10.1016/S0022-3476(81)80454-4}}</ref> The letters stand for: {{strong|c}}oloboma of the eye, {{strong|h}}eart defects, [[Atresia|{{strong|a}}tresia]] of the nasal [[choanae]], {{strong|r}}etardation of growth and/or development, [[Genital|{{strong|g}}enital]] and/or urinary abnormalities, and {{strong|e}}ar abnormalities and deafness. Although these features are no longer used in making a diagnosis, the name has remained. * [[Cat eye syndrome]], caused by the short arm (p) and a small section of the long arm (q) of human [[chromosome 22]] being present three (trisomic) or four times (tetrasomic) instead of the usual two times. The term "cat eye" was coined because of the particular appearance of the vertical colobomas in the eyes of some patients. * [[Patau syndrome]] (trisomy 13), a chromosomal abnormality that can cause a number of deformities, some of which include structural eye defects, including microphthalmia, [[Peters anomaly]], [[cataract]], iris and/or [[fundus (eye)|fundus]] coloboma, retinal dysplasia or [[retinal detachment]], sensory [[Pathologic nystagmus|nystagmus]], [[cortical visual loss]], and [[optic nerve hypoplasia]]. * [[Treacher Collins syndrome]], autosomal dominant syndrome caused by mutation of ''[[TCOF1]]''. Coloboma is part of a set of characteristic [[facies (medical)|facies]] that features craniofacial malformations, such as downslanting eyes, ear anomalies, or hypoplasia of zygomatic bone and jaw (micrognathia). * Tilted disc syndrome, an unusual congenital malformation associated with [[myopia|myopic]] [[astigmatism]] characterized by tilting of the intraocular tip of the optic nerve (the optic disc), also known as [[Ernst Fuchs (doctor)|Fuchs]] coloboma.
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