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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

Russo M, Palmeri S, Zucconi A, Vagge A, Arioni C
Ital J Pediatr 2025 Mar 5;51(1):65. doi: 10.1186/s13052-025-01882-3. PMID: 40038803Free PMC Article
Maillet C, Guilbaud L, Monier I, Khoshnood B, Quoc EB, Dugas A, Lelong N, Jouannic JM
BJOG 2024 Sep;131(10):1385-1391. Epub 2024 Mar 25 doi: 10.1111/1471-0528.17817. PMID: 38528322
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

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
Bonet C, Luciani F, Ottavi JF, Leclerc J, Jouenne FM, Boncompagni M, Bille K, Hofman V, Bossis G, Marco de Donatis G, Strub T, Cheli Y, Ohanna M, Luciano F, Marchetti S, Rocchi S, Birling MC, Avril MF, Poulalhon N, Luc T, Hofman P, Lacour JP, Davidson I, Bressac-de Paillerets B, Ballotti R, Marine JC, Bertolotto C
J Natl Cancer Inst 2017 Aug 1;109(8) doi: 10.1093/jnci/djw340. PMID: 28376192
Kim HJ, Kim IS, Dong Y, Lee IS, Kim JS, Kim JS, Woo JT, Cha BY
Int J Mol Sci 2015 Apr 20;16(4):8772-88. doi: 10.3390/ijms16048772. PMID: 25903150Free PMC Article
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
Antonescu CR, Tschernyavsky SJ, Woodruff JM, Jungbluth AA, Brennan MF, Ladanyi M
J Mol Diagn 2002 Feb;4(1):44-52. doi: 10.1016/S1525-1578(10)60679-4. PMID: 11826187Free PMC Article

Diagnosis

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
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
Levin AV
Pediatr Clin North Am 2003 Feb;50(1):55-76. doi: 10.1016/s0031-3955(02)00113-x. PMID: 12713104
Antonescu CR, Tschernyavsky SJ, Woodruff JM, Jungbluth AA, Brennan MF, Ladanyi M
J Mol Diagn 2002 Feb;4(1):44-52. doi: 10.1016/S1525-1578(10)60679-4. PMID: 11826187Free PMC Article

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
Wang W, Zhang Y, Nakashima S, Nakamura S, Wang T, Yoshikawa M, Matsuda H
J Nat Med 2019 Jun;73(3):439-449. Epub 2019 Mar 7 doi: 10.1007/s11418-018-01276-2. PMID: 30847755Free PMC Article
Lee H, Cha HJ
Cell Mol Biol (Noisy-le-grand) 2018 Apr 30;64(5):80-84. PMID: 29729698
Yun CY, Mi Ko S, Pyo Choi Y, Kim BJ, Lee J, Mun Kim J, Kim JY, Song JY, Kim SH, Hwang BY, Tae Hong J, Han SB, Kim Y
Theranostics 2018;8(7):2031-2043. Epub 2018 Feb 16 doi: 10.7150/thno.24385. PMID: 29556371Free PMC Article
Young TL, Schaffer DB, Cohen AR
J Pediatr Ophthalmol Strabismus 1992 Jan-Feb;29(1):55-8. doi: 10.3928/0191-3913-19920101-11. PMID: 1583582

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
Wen S, Min X, Zhu Y, Zhou X
BMC Pediatr 2022 May 24;22(1):305. doi: 10.1186/s12887-021-02992-7. PMID: 35610621Free 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
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J Pediatr 1987 Jan;110(1):97-101. doi: 10.1016/s0022-3476(87)80298-6. PMID: 3794894

Clinical prediction guides

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
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
Lahrouchi N, George A, Ratbi I, Schneider R, Elalaoui SC, Moosa S, Bharti S, Sharma R, Abu-Asab M, Onojafe F, Adadi N, Lodder EM, Laarabi FZ, Lamsyah Y, Elorch H, Chebbar I, Postma AV, Lougaris V, Plebani A, Altmueller J, Kyrieleis H, Meiner V, McNeill H, Bharti K, Lyonnet S, Wollnik B, Henrion-Caude A, Berraho A, Hildebrandt F, Bezzina CR, Brooks BP, Sefiani A
Nat Commun 2019 Mar 12;10(1):1180. doi: 10.1038/s41467-019-08547-w. PMID: 30862798Free PMC Article
Wang W, Zhang Y, Nakashima S, Nakamura S, Wang T, Yoshikawa M, Matsuda H
J Nat Med 2019 Jun;73(3):439-449. Epub 2019 Mar 7 doi: 10.1007/s11418-018-01276-2. PMID: 30847755Free PMC Article

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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