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Related to Coloboma: CHARGE syndrome


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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References in periodicals archive ?
Renal coloboma syndrome is inherited autosomal dominantly and PAX2 is the only gene known to be associated with RCS (4).
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.
For example, a coloboma of the retina may cause deficits in vision.
A coloboma is a "hole" or defect in one part of the eye that occurs before birth.
Microanophthalmia, Anophthalmia and Coloboma can affect only one baby in every 100,000, but the effects -being born with no eyes or significantly weaker vision -can be devastating.
MADDIE was born with an eye blemish called a coloboma - a black split in her iris which runs from pupil to the white
29) based on common features of the syndrome: C-- coloboma of the eye (missing part of iris and/or retina); H--heart defects; A--atresia of the choanae (bony or membranous blocking of nasal passage); R--retardation of growth and/or development; G--genitourinary anomalies; E--ear anomalies and/or deafness.
Coloboma of the eye and cranial nerve abnormalities.
Seven-year-old Megan was born with coloboma - a defect in her eye structure - and has poor sight.
Inherited retinal dystrophy associated with ocular coloboma causes gaps to form in certain eye structures during their development, often resembling a keyhole shape in the iris.