Coloboma

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coloboma

[‚käl·ə′bō·mə]
(medicine)
A congenital, pathologic, or operative fissure, especially of the eye or eyelid.

Coloboma

 

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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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.
Coloboma of the eye is a cleft or failure of closure during development of the eyeball.
A coloboma is a "hole" or defect in one part of the eye that occurs before birth.
Ocular colobomas are developmental abnormalities resulting from incomplete closure of the embryonic choroidal fissure.
The infant exhibited the following manifestations of NBCCS: broad nasal bridge, bifid ribs, palmar and plantar pits, hypertelorism, iris coloboma, macrocephaly, and cleft lip and palate.
Participant Age Gender Reported diagnosis (years) 1 11 Female Large choridal colobomas microphalmia, right eye blind, left eye 20/200; bilateral severe to profound hearing loss; severe cleft lip and palette, TEF; heart--PDA resolved; heart murmur; significant developmental delays; missing semicircular canals 2 11 Female Not reported 3 6 Female Retinal colobomas bilateral; bilateral hearing aids; partial atresia 4 7 Female Not reported 5 11 Male Mild right ear hearing loss, severe left ear hearing loss; vision: farsightedness, left eye worse 6 8 Male Colobomas in both eyes; g tube track from birth to age 2.
colobomas, choristomas, and ectopic lacrimal gland tissue), cardiovascular anomalies (e.
Colobomas are the result of an incomplete closure of the foetal fissure during embryogenesis.
Some sensory impairments include colobomas, semicircular anomalies (Murofushi et al.
There is generally a superior visual field defect and it is often associated with colobomas of the iris, ciliary body and fundus.