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Microphthalmia, isolated 7(MCOP7)

MedGen UID:
462319
Concept ID:
C3150969
Disease or Syndrome
Synonyms: MCOP7
 
Gene: GDF3
Cytogenetic location: 12p13.31
OMIM: 613704

Definition

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.
[from GHR]

Clinical features

Microphthalmos
MedGen UID:
504501
Concept ID:
CN000533
Finding
A developmental anomaly characterized by abnormal smallness of one or both eyes.
Microphthalmos
MedGen UID:
504501
Concept ID:
CN000533
Finding
A developmental anomaly characterized by abnormal smallness of one or both eyes.

Recent clinical studies

Etiology

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. [Epub ahead of print] PMID: 22054996
Stark Z, Storen R, Bennetts B, Savarirayan R, Jamieson RV
Eur J Hum Genet 2011 Jul;19(7):753-6. Epub 2011 Feb 16 doi: 10.1038/ejhg.2011.11. [Epub ahead of print] PMID: 21326281Free PMC Article
Dubourg C, Lazaro L, Pasquier L, Bendavid C, Blayau M, Le Duff F, Durou MR, Odent S, David V
Hum Mutat 2004 Jul;24(1):43-51. doi: 10.1002/humu.20056. PMID: 15221788
Harris J, Källén B, Robert E
J Med Genet 1996 Oct;33(10):809-13. PMID: 8933331Free PMC Article
Källén B, Robert E, Harris J
Int J Epidemiol 1996 Oct;25(5):1009-16. PMID: 8921488

Diagnosis

Huynh N, Blain D, Glaser T, Doss EL, Zein WM, Lang DM, Baker EH, Hill S, Brewer CC, Kopp JB, Bardakjian TM, Maumenee IH, Bateman BJ, Brooks BP
Am J Ophthalmol 2013 Dec;156(6):1159-1168.e4. Epub 2013 Sep 5 doi: 10.1016/j.ajo.2013.06.037. [Epub ahead of print] PMID: 24012100
Dumitrescu AV, Milunsky JM, Longmuir SQ, Drack AV
Ophthalmic Genet 2012 Jun;33(2):100-6. Epub 2011 Dec 22 doi: 10.3109/13816810.2011.634878. [Epub ahead of print] PMID: 22191992
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. [Epub ahead of print] PMID: 22054996
Stark Z, Storen R, Bennetts B, Savarirayan R, Jamieson RV
Eur J Hum Genet 2011 Jul;19(7):753-6. Epub 2011 Feb 16 doi: 10.1038/ejhg.2011.11. [Epub ahead of print] PMID: 21326281Free PMC Article
Samija I, Lukac J, Marić-Brozić J, Kusić Z
Croat Med J 2004 Apr;45(2):142-8. PMID: 15103749

Therapy

Huynh N, Blain D, Glaser T, Doss EL, Zein WM, Lang DM, Baker EH, Hill S, Brewer CC, Kopp JB, Bardakjian TM, Maumenee IH, Bateman BJ, Brooks BP
Am J Ophthalmol 2013 Dec;156(6):1159-1168.e4. Epub 2013 Sep 5 doi: 10.1016/j.ajo.2013.06.037. [Epub ahead of print] PMID: 24012100
Bhattacharjee H, Das K, Borah RR, Guha K, Gogate P, Purukayastha S, Gilbert C
Indian J Ophthalmol 2008 Nov-Dec;56(6):495-9. PMID: 18974521Free PMC Article
Li RH, Tam WH, Ng PC, Mok TS, Tam B, Lau TK
J Reprod Med 2007 Jun;52(6):575-6. PMID: 17694989

Prognosis

Samija I, Lukac J, Marić-Brozić J, Kusić Z
Croat Med J 2004 Apr;45(2):142-8. PMID: 15103749
Ferda Percin E, Ploder LA, Yu JJ, Arici K, Horsford DJ, Rutherford A, Bapat B, Cox DW, Duncan AM, Kalnins VI, Kocak-Altintas A, Sowden JC, Traboulsi E, Sarfarazi M, McInnes RR
Nat Genet 2000 Aug;25(4):397-401. doi: 10.1038/78071. PMID: 10932181
Bessant DA, Khaliq S, Hameed A, Anwar K, Mehdi SQ, Payne AM, Bhattacharya SS
Am J Hum Genet 1998 May;62(5):1113-6. doi: 10.1086/301843. PMID: 9545413Free PMC Article

Clinical prediction guides

Huynh N, Blain D, Glaser T, Doss EL, Zein WM, Lang DM, Baker EH, Hill S, Brewer CC, Kopp JB, Bardakjian TM, Maumenee IH, Bateman BJ, Brooks BP
Am J Ophthalmol 2013 Dec;156(6):1159-1168.e4. Epub 2013 Sep 5 doi: 10.1016/j.ajo.2013.06.037. [Epub ahead of print] PMID: 24012100
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. [Epub ahead of print] PMID: 22054996
Morlé L, Bozon M, Zech JC, Alloisio N, Raas-Rothschild A, Philippe C, Lambert JC, Godet J, Plauchu H, Edery P
Am J Hum Genet 2000 Dec;67(6):1592-7. Epub 2000 Oct 13 doi: 10.1086/316894. [Epub ahead of print] PMID: 11035633Free PMC Article
Bessant DA, Khaliq S, Hameed A, Anwar K, Mehdi SQ, Payne AM, Bhattacharya SS
Am J Hum Genet 1998 May;62(5):1113-6. doi: 10.1086/301843. PMID: 9545413Free PMC Article
Hordijk R, Van de Logt F, Houtman WA, Van Essen AJ
Genet Couns 1996;7(2):113-22. PMID: 8831130

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