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Isolated microphthalmia 1(MCOP1)

MedGen UID:
381546
Concept ID:
C1855052
Disease or Syndrome
Synonym: MICROPHTHALMOS, AUTOSOMAL RECESSIVE
 
Monarch Initiative: MONDO:0009631
OMIM®: 251600

Definition

Microphthalmia designates a heterogeneous group of ocular malformations with a more or less evident reduction in the size of the eyeball. Additional features include high hypermetropia and a short axial length. The size of the anterior chamber and the cornea may also be reduced, whereas the lens is normal or thicker than usual for age (summary by Fuchs et al., 2005). Genetic Heterogeneity of Isolated Microphthalmia MCOP1 has been mapped to chromosome 14q32. MCOP2 (610093) is caused by mutation in the CHX10 gene (142993) on chromosome 14q24. MCOP4 (613094) is caused by mutation in the GDF6 gene (601147) on chromosome 8q22. MCOP5 (611040) is caused by mutation in the MFRP gene (606227) on chromosome 11q23. MCOP6 (613517) is caused by mutation in the PRSS56 gene (613858) on chromosome 2q37. MCOP7 (613704) is caused by mutation in the GDF3 gene (606522) on chromosome 12p13. MCOP8 (615113) is caused by mutation in the ALDH1A3 gene (600463) on chromosome 15q26. A disorder formerly designated MCOP3 has been reclassified as syndromic microphthalmia-16 (611038). [from OMIM]

Clinical features

From HPO
Anophthalmia
MedGen UID:
314
Concept ID:
C0003119
Congenital Abnormality
Absence of the globe or eyeball.
Glaucoma
MedGen UID:
42224
Concept ID:
C0017601
Disease or Syndrome
Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.
Microphthalmia
MedGen UID:
10033
Concept ID:
C0026010
Congenital Abnormality
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.\n\nPeople 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.\n\nPeople 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.\n\nBetween 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.
Hyperopia, high
MedGen UID:
341009
Concept ID:
C1855925
Finding
A severe form of hypermetropia with over +5.00 diopters.

Term Hierarchy

Professional guidelines

PubMed

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Recent clinical studies

Etiology

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Diagnosis

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Therapy

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Prognosis

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Clinical prediction guides

Morhart P, Mardin C, Rauh M, Jüngert J, Hammersen J, Kehl S, Schuh W, Maier-Wohlfart S, Hermes K, Neubert A, Schneider M, Hein A, Woelfle J, Schneider H
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J Nat Med 2019 Jun;73(3):439-449. Epub 2019 Mar 7 doi: 10.1007/s11418-018-01276-2. PMID: 30847755Free PMC Article
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Recent systematic reviews

Mahmoud A, Pomar L, Lambert V, Picone O, Hcini N
Ocul Immunol Inflamm 2024 Nov;32(9):2217-2227. Epub 2024 Feb 13 doi: 10.1080/09273948.2024.2314086. PMID: 38350011

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