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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; see 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

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Taha Najim R, Topa A, Jugård Y, Casslén B, Odersjö M, Andersson Grönlund M
Acta Ophthalmol 2020 Dec;98(8):848-858. Epub 2020 May 21 doi: 10.1111/aos.14427. PMID: 32436650
Shah SP, Taylor AE, Sowden JC, Ragge N, Russell-Eggitt I, Rahi JS, Gilbert CE; Surveillance of Eye Anomalies Special Interest Group
Ophthalmology 2012 Feb;119(2):362-8. Epub 2011 Nov 4 doi: 10.1016/j.ophtha.2011.07.039. PMID: 22054996
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Hum Mutat 2004 Jul;24(1):43-51. doi: 10.1002/humu.20056. PMID: 15221788

Recent clinical studies

Etiology

Landau-Prat D, Kim DH, Bautista S, Strong A, Revere KE, Katowitz WR, Katowitz JA
Ophthalmic Genet 2023 Dec;44(6):547-552. Epub 2023 Jul 26 doi: 10.1080/13816810.2023.2237568. PMID: 37493047
Uto T, Ohta T, Nakayama E, Nakagawa M, Hatada M, Shoyama Y
J Oleo Sci 2022;71(9):1403-1412. doi: 10.5650/jos.ess22157. PMID: 36047244
Alkatan HM, Bedaiwi KM, Al-Faky YH, Maktabi AMY
Sci Rep 2022 Mar 28;12(1):5283. doi: 10.1038/s41598-022-09261-2. PMID: 35347187Free PMC Article
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
Eur J Pediatr 2022 Jan;181(1):413-418. Epub 2021 Aug 5 doi: 10.1007/s00431-021-04221-w. PMID: 34355278Free PMC Article
Liang CH, Chou TH, Ding HY
J Dermatol Sci 2010 Mar;57(3):170-7. Epub 2010 Jan 7 doi: 10.1016/j.jdermsci.2009.12.009. PMID: 20071152

Diagnosis

Landau-Prat D, Kim DH, Bautista S, Strong A, Revere KE, Katowitz WR, Katowitz JA
Ophthalmic Genet 2023 Dec;44(6):547-552. Epub 2023 Jul 26 doi: 10.1080/13816810.2023.2237568. PMID: 37493047
Chesneau B, Aubert-Mucca M, Fremont F, Pechmeja J, Soler V, Isidor B, Nizon M, Dollfus H, Kaplan J, Fares-Taie L, Rozet JM, Busa T, Lacombe D, Naudion S, Amiel J, Rio M, Attie-Bitach T, Lesage C, Thouvenin D, Odent S, Morel G, Vincent-Delorme C, Boute O, Vanlerberghe C, Dieux A, Boussion S, Faivre L, Pinson L, Laffargue F, Le Guyader G, Le Meur G, Prieur F, Lambert V, Laudier B, Cottereau E, Ayuso C, Corton-Pérez M, Bouneau L, Le Caignec C, Gaston V, Jeanton-Scaramouche C, Dupin-Deguine D, Calvas P, Chassaing N, Plaisancié J
Clin Genet 2022 May;101(5-6):494-506. Epub 2022 Feb 27 doi: 10.1111/cge.14123. PMID: 35170016
Matsushita I, Morita H, Kondo H
Jpn J Ophthalmol 2020 Nov;64(6):635-641. Epub 2020 Aug 28 doi: 10.1007/s10384-020-00766-9. PMID: 32857266
Taha Najim R, Topa A, Jugård Y, Casslén B, Odersjö M, Andersson Grönlund M
Acta Ophthalmol 2020 Dec;98(8):848-858. Epub 2020 May 21 doi: 10.1111/aos.14427. PMID: 32436650
Plaisancié J, Ceroni F, Holt R, Zazo Seco C, Calvas P, Chassaing N, Ragge NK
Hum Genet 2019 Sep;138(8-9):799-830. Epub 2019 Feb 14 doi: 10.1007/s00439-019-01977-y. PMID: 30762128

Therapy

Wu JF, Turak A, Zang D, Zou GA, Aisa HA
J Nat Prod 2022 Nov 25;85(11):2570-2582. Epub 2022 Nov 3 doi: 10.1021/acs.jnatprod.2c00527. PMID: 36326734
Uto T, Ohta T, Nakayama E, Nakagawa M, Hatada M, Shoyama Y
J Oleo Sci 2022;71(9):1403-1412. doi: 10.5650/jos.ess22157. PMID: 36047244
Park HJ, Cho JH, Hong SH, Kim DH, Jung HY, Kang IK, Cho YJ
J Nat Med 2018 Jan;72(1):127-135. Epub 2017 Sep 7 doi: 10.1007/s11418-017-1120-7. PMID: 28884442
Wang L, He F, Bu J, Zhen Y, Liu X, Du W, Dong J, Cooney JD, Dubey SK, Shi Y, Gong B, Li J, McBride PF, Jia Y, Lu F, Soltis KA, Lin Y, Namburi P, Liang C, Sundaresan P, Paw BH, Li W, Li DY, Phillips JD, Yang Z
Am J Hum Genet 2012 Jan 13;90(1):40-8. Epub 2012 Jan 5 doi: 10.1016/j.ajhg.2011.11.026. PMID: 22226084Free PMC Article
Källén B, Tornqvist K
Eur J Epidemiol 2005;20(4):345-50. doi: 10.1007/s10654-004-6880-1. PMID: 15971507

Prognosis

Darbinian N, Darbinyan A, Sinard J, Tatevosian G, Merabova N, D'Amico F, Khader T, Bajwa A, Martirosyan D, Gawlinski AK, Pursnani R, Zhao H, Amini S, Morrison M, Goetzl L, Selzer ME
Int J Mol Sci 2022 Dec 21;24(1) doi: 10.3390/ijms24010135. PMID: 36613580Free PMC Article
Taha Najim R, Topa A, Jugård Y, Casslén B, Odersjö M, Andersson Grönlund M
Acta Ophthalmol 2020 Dec;98(8):848-858. Epub 2020 May 21 doi: 10.1111/aos.14427. PMID: 32436650
Hakki SS, Kayis SA, Hakki EE, Bozkurt SB, Duruksu G, Unal ZS, Turaç G, Karaoz E
J Periodontol 2015 Feb;86(2):283-91. Epub 2014 Oct 17 doi: 10.1902/jop.2014.140257. PMID: 25325708
Said MB, Chouchène E, Salem SB, Daoud K, Largueche L, Bouassida W, Benzina Z, Ayadi H, Söderkvist P, Matri L, Hmani-Aifa M
Gene 2013 Oct 10;528(2):288-94. Epub 2013 Jun 29 doi: 10.1016/j.gene.2013.06.045. PMID: 23820083
Rigual NR, Cheney RT, Iwenofu OH, Li Q, Loree TR, Popat SR, Merzianu M
Laryngoscope 2007 Aug;117(8):1354-8. doi: 10.1097/mlg.0b013e31806146e5. PMID: 17592396

Clinical prediction guides

Plaisancié J, Martinovic J, Chesneau B, Whalen S, Rodriguez D, Audebert-Bellanger S, Marzin P, Grotto S, Perthus I, Holt RJ, Bax DA, Ragge N, Chassaing N
J Med Genet 2023 Dec 21;61(1):84-92. doi: 10.1136/jmg-2023-109331. PMID: 37586836
Alkatan HM, Bedaiwi KM, Al-Faky YH, Maktabi AMY
Sci Rep 2022 Mar 28;12(1):5283. doi: 10.1038/s41598-022-09261-2. PMID: 35347187Free PMC Article
Matsushita I, Morita H, Kondo H
Jpn J Ophthalmol 2020 Nov;64(6):635-641. Epub 2020 Aug 28 doi: 10.1007/s10384-020-00766-9. PMID: 32857266
Wang L, He F, Bu J, Zhen Y, Liu X, Du W, Dong J, Cooney JD, Dubey SK, Shi Y, Gong B, Li J, McBride PF, Jia Y, Lu F, Soltis KA, Lin Y, Namburi P, Liang C, Sundaresan P, Paw BH, Li W, Li DY, Phillips JD, Yang Z
Am J Hum Genet 2012 Jan 13;90(1):40-8. Epub 2012 Jan 5 doi: 10.1016/j.ajhg.2011.11.026. PMID: 22226084Free PMC Article
Sato M, Morii E, Takebayashi-Suzuki K, Yasui N, Ochi T, Kitamura Y, Nomura S
Biochem Biophys Res Commun 1999 Jan 19;254(2):384-7. doi: 10.1006/bbrc.1998.9918. PMID: 9918847

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