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Microphthalmia/Anophthalmia/Coloboma Spectrum

Abstract
Microphthalmia, anophthalmia, and coloboma comprise the MAC spectrum of ocular malformations. Microphthalmia refers to a globe with a total axial length that is at least two standard deviations below the mean for age. Anophthalmia refers to complete absence of the globe in the presence of ocular adnexa (eyelids, conjunctiva, and lacrimal apparatus). Coloboma refers to the ocular malformations that result from failure of closure of the optic fissure. Chorioretinal coloboma refers to coloboma of the retina and choroid. Iris coloboma causes the iris to appear keyhole-shaped. Microphthalmia, anophthalmia, and coloboma may be unilateral or bilateral; when bilateral they may occur in any combination.Molecular genetic testing (which can include sequence analysis, gene-targeted deletion/duplication analysis, and chromosome microarray analysis [CMA]) can identify a genetic cause in 80% of individuals with bilateral anophthalmia/severe microphthalmia and in up to 20% of all individuals with an ocular malformation in the MAC spectrum.When an inherited or de novo chromosome abnormality or a specific syndrome is identified either by phenotypic findings or by genetic/genomic testing, genetic counseling is indicated based on the mode of inheritance for that condition.Treatment of MAC spectrum: Prosthetic intervention is appropriate for those with severe microphthalmia and anophthalmia. In many infants, an ocularist can start shortly after birth to expand the palpebral fissures, conjunctival cul-de-sac, and orbit using conformers of progressively increasing size. An oculoplastic surgeon can help determine the most suitable options for surgical intervention after age six months (when postnatal growth of the orbit can be assessed) and before the age that orbital dimensions are fixed (after which extensive orbital reconstruction may be required). Children with reduced vision may benefit from visual aids and other visual resources as well as early intervention to help optimize psychomotor development, educational endeavors, life skills, and mobility. Protection of the healthy eye in those with unilateral involvement is recommended.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Publisher

University of Washington, Seattle
Seattle (WA)

Language

eng

PubMed ID

20301552

Citation

Bardakjian T, Weiss A, Schneider A: Microphthalmia/Anophthalmia/Coloboma Spectrum.GeneReviews®. Edited by Adam MP, et al: University of Washington, Seattle, 1993, Seattle (WA).
Bardakjian T, Weiss A, Schneider A. Microphthalmia/Anophthalmia/Coloboma Spectrum. Edited by Adam MP, Ardinger HH, Pagon RA, et al. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993.
Bardakjian T & Weiss A & Schneider A. (1993). Microphthalmia/Anophthalmia/Coloboma Spectrum. Edited by Adam MP & Ardinger HH & Pagon RA, et al. In GeneReviews®. Seattle (WA): University of Washington, Seattle;
Bardakjian T, Weiss A, Schneider A. Edited by Adam MP, et al. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993.
* Article titles in AMA citation format should be in sentence-case
TY - CHAP T1 - Microphthalmia/Anophthalmia/Coloboma Spectrum BT - GeneReviews® A1 - Bardakjian,Tanya, AU - Weiss,Avery, AU - Schneider,Adele, Y1 - 1993/// PY - 2015/7/9/pubmed PY - 2015/7/9/medline PY - 2010/3/20/entrez KW - BCL-6 corepressor KW - Beta-crystallin A4 KW - Bone morphogenetic protein 4 KW - Chromodomain-helicase-DNA-binding protein 7 KW - Cytochrome c-type heme lyase KW - Forkhead box protein E3 KW - Growth/differentiation factor 6 KW - Homeobox expressed in ES cells 1 KW - Homeobox protein OTX2 KW - N-alpha-acetyltransferase 10 KW - Nance-Horan syndrome protein KW - NF-kappa-B essential modulator KW - Paired box protein Pax-6 KW - Peroxidasin homolog KW - Protein-serine O-palmitoleoyltransferase porcupine KW - Receptor for retinol uptake STRA6 KW - Retinal homeobox protein Rx KW - Retinoic acid receptor beta KW - Sonic hedgehog protein KW - SPARC-related modular calcium-binding protein 1 KW - Transcription factor AP-2-alpha KW - Transcription factor SOX-2 KW - Visual system homeobox 2 KW - BCOR KW - BMP4 KW - CHD7 KW - CRYBA4 KW - FOXE3 KW - GDF6 KW - HCCS KW - HESX1 KW - IKBKG KW - NAA10 KW - NHS KW - OTX2 KW - PAX6 KW - PORCN KW - PXDN KW - RARB KW - RAX KW - SHH KW - SMOC1 KW - SOX2 KW - STRA6 KW - TFAP2A KW - VSX2 KW - Microphthalmia/Anophthalmia/Coloboma Spectrum KW - Overview N2 - CLINICAL CHARACTERISTICS: Microphthalmia, anophthalmia, and coloboma comprise the MAC spectrum of ocular malformations. Microphthalmia refers to a globe with a total axial length that is at least two standard deviations below the mean for age. Anophthalmia refers to complete absence of the globe in the presence of ocular adnexa (eyelids, conjunctiva, and lacrimal apparatus). Coloboma refers to the ocular malformations that result from failure of closure of the optic fissure. Chorioretinal coloboma refers to coloboma of the retina and choroid. Iris coloboma causes the iris to appear keyhole-shaped. Microphthalmia, anophthalmia, and coloboma may be unilateral or bilateral; when bilateral they may occur in any combination. DIAGNOSIS/TESTING: Molecular genetic testing (which can include sequence analysis, gene-targeted deletion/duplication analysis, and chromosome microarray analysis [CMA]) can identify a genetic cause in 80% of individuals with bilateral anophthalmia/severe microphthalmia and in up to 20% of all individuals with an ocular malformation in the MAC spectrum. GENETIC COUNSELING: When an inherited or de novo chromosome abnormality or a specific syndrome is identified either by phenotypic findings or by genetic/genomic testing, genetic counseling is indicated based on the mode of inheritance for that condition. MANAGEMENT: Treatment of MAC spectrum: Prosthetic intervention is appropriate for those with severe microphthalmia and anophthalmia. In many infants, an ocularist can start shortly after birth to expand the palpebral fissures, conjunctival cul-de-sac, and orbit using conformers of progressively increasing size. An oculoplastic surgeon can help determine the most suitable options for surgical intervention after age six months (when postnatal growth of the orbit can be assessed) and before the age that orbital dimensions are fixed (after which extensive orbital reconstruction may be required). Children with reduced vision may benefit from visual aids and other visual resources as well as early intervention to help optimize psychomotor development, educational endeavors, life skills, and mobility. Protection of the healthy eye in those with unilateral involvement is recommended. PB - University of Washington, Seattle CY - Seattle (WA) UR - https://www.unboundmedicine.com/medline/citation/20301552/GeneReviews®:_Microphthalmia/Anophthalmia/Coloboma_Spectrum L2 - https://www.ncbi.nlm.nih.gov/books/NBK1378 DB - PRIME DP - Unbound Medicine ER -