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A congenital, pathologic, or operative fissure, especially of the eye or eyelid.



a defect of the tissue of the eyelids or any internal membrane of the eyeball.

Congenital coloboma, usually found in the choroid or retina, originates with defects in the formation of the embryonic eye. Acquired coloboma develops as a result of punctures of the eyeball or surgical intervention (for example, iridectomy). Coloboma of the eyelids is often associated with other defects of facial development (harelip, cleft palate).

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Data of 21 eyes (21 patients) who had underwent surgery for RD accompanying chorioretinal colobomas were evaluated.
Syndromes such as Treacher-Collins, Miller-Dieker, Townes-Brocks, CHARGE, branquio-oto-renal, Parry-Romberg, among others, have similar characteristics to HFM, such as mandibular disorders, colobomas or eyelid malformations and abnormalities of the outer ear.
Reduced control of light entering eye Blepharospasm Involuntary blinking, Imbalance of blink reflex squeezing or closure of eyelids Buphthalmos Epiphora, blepharospasm Multiple causes enlarged cornea Coloboma Variable, vision normal Reduction in control of to poor light entering eye Stimulation of trigeminal nerve Corneal Pain, foreign-body Direct irritation of abrasion sensation, reflex tears trigeminal afferents Corneal ulcer Pain, tearing, poor Direct irritation of vision, red eye trigeminal afferents Corneal Low vision, pain, Deposition of lipids in dystrophy hyperaemia cornea.
4) There can be many associated systemic features including progressive retinal dysplasia, coloboma, congenital heart disease, microcystic kidney disease, liver fibrosis, polyldactyly and soft tissue tumors of tongue.
These are: C: Coloboma of the eye, central nervous system anomalies; H: Heart defects; A: Atresia of the choanae R: Retardation of growth and/or development G: Genital and/or urinary defects (Hypogonadism) E: Ear anomalies and/or deafness.
Ocular colobomas are developmental abnormalities resulting from incomplete closure of the embryonic choroidal fissure.
colobomas occur in all of these syndromes along with a variety of neurologic abnormalities.
Anomalia Descripcion P Anomalias de Dandy Walker, quiste cerebeloso, fosa posterior hipoplasia cerebelosa, disgenesia cortical H Hemangioma(s) Segmentarios, region facial, cervical, amplios, episodios de regresion y progresion A Estenosis arterial Oclusion intracraneal, progresiva, vasos colaterales, infartos A Anomalias arteriales Carotida interna: agenesia/hipoplasia; arteria cerebral media: displasia fusiforme, arteria subclavia: aberrante, hipoplasica C Anomalias Coartacion, atresia arco aortico, cardiacas/aorticas atresia tricuspide , tetralogia de Fallot E Anomalias oculares Hemangioma coroideo, colobomas, microftalmos, hipoplasia nervio optico Tabla 2.
Ademas de las manifestaciones clinico-radiologicas inicialmente descritas, se ha establecido que otras anomalias tambien pueden contribuir a la variacion en la expresion clinica del trastorno, tales como las heterotopias periventriculares y subcorticales, los quistes del plexo coroideo, colobomas, asimetrias hemisfericas, displasias corticales, tumores intra o extracraneales, asi como otras anomalias craneofaciales (11).
As indicated above, children with CHARGE syndrome often experience visual impairment due to colobomas of the iris and/or retina, which have been considered cardinal features of the disorder.