Microphthalmia

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MedlinePlus Genetics: ⁴² Microphthalmia is an eye abnormality that arises before birth. 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 microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in 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 in 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.People with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.Between one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.

MalaCards based summary: Microphthalmia, also known as microphthalmos, is related to microphthalmia, syndromic 1 and microphthalmia, syndromic 3. An important gene associated with Microphthalmia is VSX2 (Visual System Homeobox 2), and among its related pathways/superpathways are Neural crest differentiation and Mesodermal commitment pathway. Affiliated tissues include eye, retina and brain, and related phenotypes are Increased shRNA abundance (Z-score > 2) and nervous system

GARD: ¹⁹ A non-syndromic group of structural developmental eye defects characterized by the variable combination of microphthalmia, ocular coloboma, and anophthalmia, either unilaterally or bilaterally, with no other associated ocular conditions in the affected/contralateral eye, and no systemic anomalies.

Orphanet: ⁵⁸ A non-syndromic group of structural developmental eye defects characterized by the variable combination of microphthalmia, ocular coloboma, and anophthalmia, either unilaterally or bilaterally, with no other associated ocular conditions in the affected/contralateral eye, and no systemic anomalies.

Disease Ontology: ¹¹ An eye disease where one or both eyeballs are abnormally small.

Wikipedia: ⁷⁵ Microphthalmia (Greek: μικρός, mikros, 'small', ὀφθαλμός, ophthalmos, 'eye', also referred as... more...

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