coloboma


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Related to coloboma: CHARGE syndrome

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

/col·o·bo·ma/ (kol″o-bo´mah) pl. colobomas, colobo´mata   [L.]
1. an absence or defect of tissue.
2. a defect of ocular tissue, due to failure of part of the fetal fissure to close; it may affect the choroid, ciliary body, eyelid, iris, lens, optic nerve, or retina.

bridge coloboma  coloboma of the iris in which a strip of iris tissue bridges over the fissure.
Fuchs' coloboma  a small, crescent-shaped defect of the choroid at the lower edge of the optic disk.
coloboma lo´buli  fissure of the ear lobe.

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.

coloboma

[kol′əbō′mə] pl. colobomas, colobomata
Etymology: Gk, koloboma, defect
a congenital or pathological defect in the ocular tissue of the body, usually affecting the iris, ciliary body, or choroid by forming a cleft that extends inferiorly. Colobomas are usually the result of the failure of part of the fetal fissure to close. colobomatous, adj.
enlarge picture
Coloboma

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

coloboma

an apparent absence or defect of some ocular tissue, usually due to failure of a part of the fetal fissure to close; it may affect the choroid, ciliary body, eyelid (palpebral coloboma, coloboma palpebrale), iris (coloboma iridis), lens (coloboma lentis), optic nerve or retina (coloboma retinae). Colobomas of the choroid are common in cattle, and have been observed in miniature swine. Colobomas of the optic disk are an inherited defect in several breeds of cattle.

atypical coloboma
on occurring at a location other than the fetal fissure.
iris coloboma
a full thickness defect in the iris. When it occurs at the base of the iris, it is called iridodiastasis.
optic nerve coloboma
part of the scleral ectasia syndrome in dogs; also seen in Basenji dogs and Charolais cattle.
typical coloboma
one occurring in or near to the fetal cleft.

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 ?
SCC malformations are mostly reported in congenital syndromes with multiple deformities such as coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear abnormalities syndrome.
Moreover, it was observed that baby was facing difficulty in breathing with nose, chest was retracted when the child was breathing through mouth or crying and furthermore there was slight evidence of coloboma of eyes was noticed.
Conclusion: Pars plana vitrectomy along with silicon oil tamponade for retinal detachment related to choroi- retinal coloboma improves the long-term anatomical outcome however no significant improvement in visual acuity was observed.
In a study (11) by Shah et al to determine the structural abnormalities in patients with anophthalmos, coloboma and microphthalmos, 32.
Comprehensive ophthalmologic examination of 29 infants with microcephaly, presumed caused by congenital ZV infection, revealed 10 (35%) had abnormalities, which included focal pigment mottling, chorioretinal atrophy, hypoplasia and cupping of optic disk, loss of foveal reflex, macular atrophy, lens subluxation, and coloboma of iris.
Orbita: distopia orbitaria (mala posicion), dermoides epibulbares, anoftalmia/microftalmia, blefaroptosis, coloboma retinal o coroidal, entre otras anomalias menos frecuentes.
Both parties are working together to treat Salma Mustafa Asaad, who was born with two-thirds of her left eyelid missing, due to a rare condition called congenital eyelid coloboma.
Disorders less frequently seen in clinical practice - such as uveal coloboma, Coats disease, and rare tumors - are included in its comprehensive coverage.
Non-retinal lesions included angiofibroma in the eyelid in 39 patients, non-paralytic strabismus in 5 patients, coloboma in three patients and depigmentation of the iris in 2 patients (12).
Differential diagnosis includes malformations affecting the anterior segment of the eye (Rieger type I syndrome and Peters syndrome), iris coloboma, albinism (oculocutaneous or ocular), and the Gillespie syndrome.
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.
CHARGE: Coloboma of the eye, Heart defects, Atresia of the choanae, severe Retardation of growth and development, Genital abnormalities, and Ear abnormalities