Microphthalmia

Definition:

Anophthalmia and/or microphthalmia (A/M) can be defined as an absence or reduced size of the globe in the orbit. Anophthalmia refers to complete absence of the globe in the presence of ocular adnexae. Microphthalmia is defined as a globe with a total axial length that is at least two standard deviations below the mean for age. Coloboma, or a defect in the closure of the choroid fissure, is most common ocular malformation associated with microphthalmia. Coloboma is considered to be part of the A/M spectrum. A/M can be isolated, associated other anomalies or part of a well defined syndrome. A/M have complex aetiology with chromosomal, monogenic and environmental causes identified.

References:

[1]. Amit S Verma, et al. Anophthalmia and microphthalmia. Orphanet J Rare Dis. 2007 Nov 26;2:47. [Content Brief]

[2]. Andreas Gal, et al. Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease. Am J Hum Genet. 2011 Mar 11;88(3):382-90. [Content Brief]

[3]. Anne M Slavotinek, et al. Eye development genes and known syndromes. Mol Genet Metab. 2011 Dec;104(4):448-56. [Content Brief]

[4]. Christopher M Chou, et al. Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease. Cell. 2015 Apr 23;161(3):634-646. [Content Brief]

[5]. E Ferda Percin, et al. Human microphthalmia associated with mutations in the retinal homeobox gene CHX10. Nat Genet. 2000 Aug;25(4):397-401. [Content Brief]

[6]. Jillian Casey, et al. First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype. Hum Mutat. 2011 Dec;32(12):1417-26. [Content Brief]

[7]. Lejin Wang, et al. ABCB6 mutations cause ocular coloboma. Am J Hum Genet. 2012 Jan 13;90(1):40-8. [Content Brief]

[8]. Lisa A Schimmenti, et al. Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia. Am J Med Genet A. 2003 Jan 30;116A(3):215-21. [Content Brief]

[9]. Lucas Fares-Taie, et al. ALDH1A3 mutations cause recessive anophthalmia and microphthalmia. Am J Hum Genet. 2013 Feb 7;92(2):265-70. [Content Brief]

[10]. Mika Asai-Coakwell, et al. Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes. Hum Mol Genet. 2009 Mar 15;18(6):1110-21. [Content Brief]

[11]. Ming Ye, et al. Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies. Hum Mol Genet. 2010 Jan 15;19(2):287-98. [Content Brief]

[12]. Nicolas Chassaing, et al. Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia. Am J Med Genet A. 2016 Jul;170(7):1895-8. [Content Brief]

[13]. Tanya M Bardakjian, et al. The genetics of anophthalmia and microphthalmia. Curr Opin Ophthalmol. 2011 Sep;22(5):309-13. [Content Brief]

[14]. Udy Bar-Yosef, et al. CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds. Hum Genet. 2004 Sep;115(4):302-9. [Content Brief]

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