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Isolated microphthalmia 2(MCOP2)

MedGen UID:
351204
Concept ID:
C1864720
Disease or Syndrome
Synonym: Microphthalmia, Isolated 2
 
Gene (location): VSX2 (14q24.3)
 
Monarch Initiative: MONDO:0012409
OMIM®: 610093

Definition

Any isolated microphthalmia in which the cause of the disease is a mutation in the VSX2 gene. [from MONDO]

Clinical features

From HPO
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
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.
Opacification of the corneal stroma
MedGen UID:
602191
Concept ID:
C0423250
Finding
Reduced transparency of the stroma of cornea.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Qin Y, Zhong X, Wen H, Zeng Q, Liao Y, Luo D, Liang M, Tang Y, Guo J, Cao H, Yang S, Tian X, Luo G, Li S
Ultraschall Med 2022 Dec;43(6):e125-e134. Epub 2021 Mar 16 doi: 10.1055/a-1320-0799. PMID: 33728625
Lang E, Koller S, Atac D, Pfäffli OA, Hanson JVM, Feil S, Bähr L, Bahr A, Kottke R, Joset P, Fasler K, Barthelmes D, Steindl K, Konrad D, Wille DA, Berger W, Gerth-Kahlert C
Acta Ophthalmol 2021 Jun;99(4):e594-e607. Epub 2020 Sep 30 doi: 10.1111/aos.14615. PMID: 32996714
Scott WE, Drummond GT, Keech RV, Karr DJ
Aust N Z J Ophthalmol 1989 May;17(2):143-52. doi: 10.1111/j.1442-9071.1989.tb00504.x. PMID: 2757829

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
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
Fahnehjelm C, Dafgård Kopp E, Wincent J, Güven E, Nilsson M, Olsson M, Teär Fahnehjelm K
Ophthalmic Genet 2022 Apr;43(2):172-183. Epub 2022 Feb 2 doi: 10.1080/13816810.2021.1989600. PMID: 35105264
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
Qin Y, Zhong X, Wen H, Zeng Q, Liao Y, Luo D, Liang M, Tang Y, Guo J, Cao H, Yang S, Tian X, Luo G, Li S
Ultraschall Med 2022 Dec;43(6):e125-e134. Epub 2021 Mar 16 doi: 10.1055/a-1320-0799. PMID: 33728625

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
Fahnehjelm C, Dafgård Kopp E, Wincent J, Güven E, Nilsson M, Olsson M, Teär Fahnehjelm K
Ophthalmic Genet 2022 Apr;43(2):172-183. Epub 2022 Feb 2 doi: 10.1080/13816810.2021.1989600. PMID: 35105264
Qin Y, Zhong X, Wen H, Zeng Q, Liao Y, Luo D, Liang M, Tang Y, Guo J, Cao H, Yang S, Tian X, Luo G, Li S
Ultraschall Med 2022 Dec;43(6):e125-e134. Epub 2021 Mar 16 doi: 10.1055/a-1320-0799. PMID: 33728625
Verma AS, Fitzpatrick DR
Orphanet J Rare Dis 2007 Nov 26;2:47. doi: 10.1186/1750-1172-2-47. PMID: 18039390Free PMC Article
Weiss AH, Kousseff BG, Ross EA, Longbottom J
Arch Ophthalmol 1989 Nov;107(11):1625-30. doi: 10.1001/archopht.1989.01070020703032. PMID: 2818284

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
Kim JW, Kim HI, Kim JH, Kwon OC, Son ES, Lee CS, Park YJ
Int J Mol Sci 2016 Oct 27;17(11) doi: 10.3390/ijms17111798. PMID: 27801787Free PMC Article
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

Shinar S, Blaser S, Chitayat D, Selvanathan T, Chau V, Shannon P, Agrawal S, Ryan G, Pruthi V, Miller SP, Krishnan P, Van Mieghem T
Ultrasound Obstet Gynecol 2020 Sep;56(3):371-377. doi: 10.1002/uog.22018. PMID: 32196785Free PMC Article
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
Wavreille O, François Fiquet C, Abdelwahab O, Laumonier E, Wolber A, Guerreschi P, Pellerin P
Br J Oral Maxillofac Surg 2013 Mar;51(2):e17-21. Epub 2012 Mar 30 doi: 10.1016/j.bjoms.2012.02.018. PMID: 22464758
Reis LM, Khan A, Kariminejad A, Ebadi F, Tyler RC, Semina EV
Mol Vis 2011;17:2527-32. Epub 2011 Sep 28 PMID: 21976963Free PMC Article
Hutto C, Arvin A, Jacobs R, Steele R, Stagno S, Lyrene R, Willett L, Powell D, Andersen R, Werthammer J
J Pediatr 1987 Jan;110(1):97-101. doi: 10.1016/s0022-3476(87)80298-6. PMID: 3794894

Clinical prediction guides

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
Fahnehjelm C, Dafgård Kopp E, Wincent J, Güven E, Nilsson M, Olsson M, Teär Fahnehjelm K
Ophthalmic Genet 2022 Apr;43(2):172-183. Epub 2022 Feb 2 doi: 10.1080/13816810.2021.1989600. PMID: 35105264
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
Lang E, Koller S, Atac D, Pfäffli OA, Hanson JVM, Feil S, Bähr L, Bahr A, Kottke R, Joset P, Fasler K, Barthelmes D, Steindl K, Konrad D, Wille DA, Berger W, Gerth-Kahlert C
Acta Ophthalmol 2021 Jun;99(4):e594-e607. Epub 2020 Sep 30 doi: 10.1111/aos.14615. PMID: 32996714
Verma AS, Fitzpatrick DR
Orphanet J Rare Dis 2007 Nov 26;2:47. doi: 10.1186/1750-1172-2-47. PMID: 18039390Free PMC Article

Recent systematic reviews

Léonard A, Bernard P, Hiel AL, Hubinont C
Fetal Diagn Ther 2009;26(2):61-7. Epub 2009 Sep 11 doi: 10.1159/000238117. PMID: 19752522

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