Coloboma of Macula

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Disease Ontology 12 DOID:12270 OMIM 56 120300 MeSH 43 D003103 NCIt 49 C98877 SNOMED-CT 67 93390002 ICD10 32 Q13.0

ICD10 via Orphanet 33 Q14.8 Orphanet 58 ORPHA98945 MedGen 41 C1852767 SNOMED-CT via HPO 68 263681008 UMLS 71 C0009363 C1852767

Genetics Home Reference : ²⁵ 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. 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.

MalaCards based summary : Coloboma of Macula, also known as coloboma, is related to coloboma, ocular, autosomal dominant and coloboma of optic nerve. An important gene associated with Coloboma of Macula is PAX6 (Paired Box 6). Affiliated tissues include eye, retina and brain, and related phenotypes are macular coloboma and cellular

Disease Ontology : ¹² An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc.

NIH Rare Diseases : ⁵² The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98945 Definition Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus ). It is usually isolated, but may also be associated with Down syndrome , skeletal or renal disorders. Visit the Orphanet disease page for more resources.

Wikipedia : ⁷⁴ A coloboma (from the Greek koloboma, meaning defect) is a hole in one of the structures of the eye, such... more...

More information from OMIM: 120300

Clinical features from OMIM:

120300

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Search GEO for disease gene expression data for Coloboma of Macula.