coloboma

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coloboma

 [kol″o-bo´mah] (pl. colobomas, colobo´mata) (L.)
1. a defect of tissue.
2. particularly, a defect of some ocular tissue, usually due to failure of part of the fetal fissure to close; it may affect the choroid, ciliary body, eyelid (palpebral coloboma, colobo´ma palpebra´le), iris (colobo´ma i´ridis), lens (colobo´ma len´tis), optic nerve, or retina (colobo´ma re´tinae). A scotoma is usually present, corresponding to the area of the coloboma.
Coloboma of the iris. From Dorland's, 2000.

col·o·bo·ma

(kol-ō-bō'mă),
Any defect, congenital, pathologic, or artificial, especially of the eye due to incomplete closure of the retinal fissure.
[G. kolobōma, lit., the part taken away in mutilation, fr. koloboō, to dock, mutilate]

coloboma

(kŏl′ə-bō′mə)
n. pl. colobo·mata (-mə-tə)
An anomaly of the eye, usually a developmental defect, that often results in some loss of vision.

col′o·bo′ma·tous adj.

col·o·bo·ma

(kol'ō-bō'mă)
Any defect, congenital, pathologic, or artificial, especially of the eye due to incomplete closure of the optic fissure.
[G. kolobōma, lit., the part taken away in mutilation, fr. koloboō, to dock, mutilate]

coloboma

A congenital gap in a part, especially in the IRIS or CHOROID of the eye or in an eyelid.

coloboma 

Congenital, pathological or operative anomaly in which a portion of the structure of the eye is lacking, e.g. coloboma of the choroid, coloboma of the eyelid, coloboma of the iris, coloboma of the lens, coloboma of the retina, etc. Typical colobomas result from defective closure of the embryonic fissure of the optic cup. Congenital iris colobomas are usually located inferiorly. They are often associated with Crouzon's syndrome (Fig. C13). Lid colobomas are commonly associated with Treacher-Collins syndrome. Coloboma of the optic disc is characterized by a glistening, white excavation, decentred inferiorly. It is sometimes confounded with glaucomatous cupping, especially when it is accompanied by a field defect. The condition is often associated with microphthalmia and several syndromes (e.g. Edward's syndrome, Patau's syndrome).
Fig. C13 Coloboma of the irisenlarge picture
Fig. C13  Coloboma of the iris

Patient discussion about coloboma

Q. My grandson 5mths has been dignosed with Coloboma HAs anyone had any experiences with this. He will be seen at Toronto Hospital for Sick Kids

A. Don't have it or a child with it, so I can't add from my own experience. However, here are several places in which you can find more information about this:

http://en.wikipedia.org/wiki/Coloboma
http://www.nlm.nih.gov/medlineplus/ency/article/003318.htm

More discussions about coloboma
References in periodicals archive ?
Objective: To evaluate the anatomical and visual outcome of surgical management of retinal detachment associated with chorio-retinal coloboma.
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.
Colobomas can occur as an isolated congenital abnormality or as part of a syndromic setting, including CHARGE (Coloboma, Heart malformations, choanal AtResia, Growth and/or mental retardation, genital anomalies, Ear anomalies and/or deafness), VATER (Vertebrae, Anus, Trachea, Esophagus, and Renal), branchio-oculo facial, Meckel-Gruber, Walker-Warburg, and Goldenhar syndromes; Aicardi, basal cell nevus; and Trisomy 13 and 18.
colobomas occur in all of these syndromes along with a variety of neurologic abnormalities.1
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.
Less common abnormalities include various ocular problems, such as congenital cataracts and colobomas. Cleft lip and palate have an estimated frequency of about 5%.