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.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.

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]
Farlex Partner Medical Dictionary © Farlex 2012

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.
The American Heritage® Medical Dictionary Copyright © 2007, 2004 by Houghton Mifflin Company. Published by Houghton Mifflin Company. All rights reserved.

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]
Medical Dictionary for the Health Professions and Nursing © Farlex 2012

coloboma

A congenital gap in a part, especially in the IRIS or CHOROID of the eye or in an eyelid.
Collins Dictionary of Medicine © Robert M. Youngson 2004, 2005

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
Millodot: Dictionary of Optometry and Visual Science, 7th edition. © 2009 Butterworth-Heinemann

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
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References in periodicals archive ?
The major criteria of CHARGE syndrome include coloboma, choanal atresia, and/or characteristic ear anomalies (Chen, 2017).
Adorable Lilien Molnar was born blind and was diagnosed with two severe eye conditions known as microphalamia and coloboma at just five days old
Ocular coloboma can cause a distinctive keyhole-shaped pupil as it commonly results in a missing segment in the iris, the coloured part of the eye.
Zika/associated birth defects include selected congenital brain anomalies (intracranial calcifications; cerebral atrophy; abnormal cortical formation; corpus callosum abnormalities; cerebellar abnormalities; porencephaly; hydranencephaly; ventriculomegaly/hydrocephaly); selected congenital eye anomalies (microphthalmia or anophthalmia; coloboma; cataract; intraocular calcifications; chorioretinal anomalies involving the macula, excluding retinopathy of prematurity; and optic nerve atrophy, pallor, and other optic nerve abnormalities); and/or microcephaly at birth (birth head circumference <3rd percentile for infant sex and gestational age based on INTERGROWTH/21st online percentile calculator [http://intergrowth21.ndog.ox.ac.uk/]).
Magnetic resonance imaging (MRI) of the inner ear with three-dimensional (3D) reconstruction revealed a defect in the LSCC, which was characterized by complete coloboma and interruption of the LSCC in proximity to the posterior SCC.
This condition is classified as simple, when presented as an isolated finding, or complex, when accompanied by other malformations such as colobomas, anterior segment dysgenesis, lens abnormalities, and posterior segment anomalies [1].
Major criteria Minor criteria More than two basal cell Congenital skeletal anomaly: carcinomas, or BCCs; one BCC at bifid, fused, splayed or missing younger than 30 years of age; or rib or bifid, wedged or fused more than 10 basal cell nevi vertebra Any odontogenic keratocyst Occipital-frontal circumference, (proven on histology) or more than 97 percentile, with polyostotic bone cyst frontal bossing Three or more palmar or plantar Cardiac or ovarian fibroma pits Ectopic calcification: lamellar Medulloblastoma or early-at younger than 20 years Lymphomesenteric cysts of age-falx calcification Positive family history of nevoid Congenital malformation such as basal-cell carcinoma syndrome cleft lip or palate, polydactylism, or eye anomaly (cataract, coloboma, microphthalmos)
At age 5, she was assessed by an ophthalmologist and diagnosed with bilateral chorioretinal coloboma, left iris coloboma, left cataract, left sensory exotropia, and left microphthalmos.
A birth record showed the following signs or conditions: birth weight 2,350 g (<3rd centile), length 45 cm (<3rd centile), iris coloboma at the left eye, and retrognathia.
Apart from this, people with the syndrome often have eyes that "slant downward, sparse eyelashes, and a notch in the lower eyelids called an eyelid coloboma."&nbsp;In many cases, an additional abnormality or abnormalities could also cause the person to lose their vision.
If such features are present, particularly deafness, anomalous ears, coloboma and/or hypoplasia or aplasia of the semicircular canals, CHD7 should be tested (44).
Lobuloplasty was applied in eight patients (61.5%) for partial lobule cleft, in four patients (30.7%) for elongated lobule, and in one patient (7.8%) for coloboma lobuli (congenital lobule cleft).