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Congenital ocular coloboma(COI)

MedGen UID:
1046
Concept ID:
C0009363
Congenital Abnormality
Synonyms: Coloboma; coloboma; Coloboma of eye; COLOBOMA OF IRIS, CHOROID, AND RETINA; COLOBOMA, OCULAR; COLOBOMA, OCULAR, AUTOSOMAL DOMINANT; COLOBOMA, UVEORETINAL
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: HPO
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
SNOMED CT: Coloboma of eye (92828000); Ocular coloboma (92828000); Congenital ocular coloboma (93390002); COI - Coloboma of iris, choroid and retina (92828000); Coloboma of iris, choroid and retina (92828000)
 
OMIM®: 120200
Orphanet: ORPHA194

Definition

Coloboma is an ocular birth defect resulting from abnormal development of the eye during embryogenesis. It is defined as a congenital defect in any ocular tissue, typically presenting as absent tissue or a gap, at a site consistent with aberrant closure of the optic fissure. Failure of fusion can lead to coloboma of one or multiple regions of the inferior portion of the eye affecting any part of the globe traversed by the fissure, from the iris to the optic nerve, including the ciliary body, retina, and choroid. Coloboma is also frequently associated with small (microphthalmic) or absent (anophthalmic) eyes as part of an interrelated spectrum of developmental eye anomalies, and can affect either one or both eyes (summary by Kelberman et al., 2014). Genetic Heterogeneity of Ocular Coloboma A recessive form of ocular coloboma (216820) is caused by mutation in the SALL2 gene (602219) on chromosome 14q11. [from OMIM]

Additional description

From GHR
Coloboma is an eye abnormality that occurs before birth. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in one of several parts of the eye, including the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision. Colobomas affecting the iris, which result in a "keyhole" appearance of the pupil, generally do not lead to vision loss. Colobomas involving the retina result in vision loss in specific parts of the visual field, generally the upper part. Large retinal colobomas or those affecting the optic nerve can cause low vision, which means vision loss that cannot be completely corrected with glasses or contact lenses. Some people with coloboma also have a condition called microphthalmia. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss. People with coloboma may also have other eye abnormalities, including clouding of the lens of the eye (cataract), increased pressure inside the eye (glaucoma) that can damage the optic nerve, vision problems such as nearsightedness (myopia), involuntary back-and-forth eye movements (nystagmus), or separation of the retina from the back of the eye (retinal detachment). Some individuals have coloboma as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When coloboma occurs by itself, it is described as nonsyndromic or isolated. Colobomas involving the eyeball should be distinguished from gaps that occur in the eyelids. While these eyelid gaps are also called colobomas, they arise from abnormalities in different structures during early development.  http://ghr.nlm.nih.gov/condition/coloboma

Clinical features

Coloboma
MedGen UID:
504512
Concept ID:
CN000552
Finding
A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa.
Irido-fundal coloboma
MedGen UID:
506115
Concept ID:
CN006796
Finding
The presence of a coloboma of iris, choroid and retina.
Visual impairment
MedGen UID:
22663
Concept ID:
C0042798
Finding
Vision considered to be inferior to normal vision as represented by accepted standards of acuity, field of vision, or motility. Low vision generally refers to visual disorders that are caused by diseases that cannot be corrected by refraction (e.g., MACULAR DEGENERATION; RETINITIS PIGMENTOSA; DIABETIC RETINOPATHY, etc.).
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Esotropia
MedGen UID:
504499
Concept ID:
CN000530
Finding
A form of strabismus with one or both eyes turned inward ('crossed').
Exotropia
MedGen UID:
504505
Concept ID:
CN000542
Finding
A form of strabismus with one or both eyes deviated outward.
Lens subluxation
MedGen UID:
504739
Concept ID:
CN001064
Finding
Partial dislocation of the lens of the eye.
Irido-fundal coloboma
MedGen UID:
506115
Concept ID:
CN006796
Finding
The presence of a coloboma of iris, choroid and retina.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital ocular coloboma
Follow this link to review classifications for Congenital ocular coloboma in Orphanet.

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