Anophthalmia/Microphthalmia ResearchTesting
GTR Test Accession: Help GTR000258847.6
Last updated in GTR: 2019-07-03
Last annual review date for the lab: 2022-07-12 Past due LinkOut
At a Glance
Anophthalmia/microphthalmia-esophageal atresia syndrome; Anophthalmia; Isolated microphthalmia 1
Genes (2): Help
OTX2 (14q22.3), SOX2 (3q26.33)
Screening of genes known to be involved in eye development …
Currently open
Individuals with eye conditions and their family members are eligible.
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis; Next-Generation (NGS)/Massively parallel sequencing (MPS)
Study Description
Name: Help
Genetic Studies of Human Developmental Disorders
Test purpose: Help
Contribute to generalizable knowledge
Description: Help
Screening of genes known to be involved in eye development will be performed by exome/genome and/or Sanger sequencing. If no mutation is found, data will be reviewed for novel gene identification and we will continue to screen samples for mutations in other genes characterized as research progresses. Referring providers will … View more
View citations (7)
  • Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia. Schneider A, et al. Am J Med Genet A. 2009;149A(12):2706-15. doi:10.1002/ajmg.a.33098. PMID: 19921648.
  • FOXE3 plays a significant role in autosomal recessive microphthalmia. Reis LM, et al. Am J Med Genet A. 2010;152A(3):582-90. doi:10.1002/ajmg.a.33257. PMID: 20140963.
  • OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype. Schilter KF, et al. Clin Genet. 2011;79(2):158-68. doi:10.1111/j.1399-0004.2010.01450.x. PMID: 20486942.
  • Reis LM, Tyler RC, Schilter KF, Abdul-Rahman O, Innis JW, Kozel BA, Schneider AS, Bardakjian TM, Lose EJ, Martin DM, Broeckel U, Semina EV. BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome. Hum Genet. 2011;130(4):495-504. doi:10.1007/s00439-011-0968-y. Epub 2011 Feb 22. PMID: 21340693.
  • VSX2 mutations in autosomal recessive microphthalmia. Reis LM, et al. Mol Vis. 2011;17:2527-32. Epub 2011 Sep 28. PMID: 21976963.
  • Schilter KF, Reis LM, Schneider A, Bardakjian TM, Abdul-Rahman O, Kozel BA, Zimmerman HH, Broeckel U, Semina EV. Whole-genome copy number variation analysis in anophthalmia and microphthalmia. Clin Genet. 2013;84(5):473-81. doi:10.1111/cge.12202. Epub 2013 Jun 17. PMID: 23701296.
  • Deml B, Reis LM, Maheshwari M, Griffis C, Bick D, Semina EV. Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia. Clin Genet. 2014;86(5):475-81. doi:10.1111/cge.12379. Epub 2014 Apr 12. PMID: 24628545.
Study type: Help
Observational study
Offered by: Help
Human Developmental Genetics Laboratory
Person responsible for the study: Help
Elena Semina, PhD, Lab Director
Study contact: Help
Linda Reis, MS, CGC, Genetic Counselor
Research contact policy: Help
Laboratory welcomes contact from patients/families interested in participating in a research study for this condition. Referrals from clinicians are also welcomed.
Recommended fields not provided:
Recruitment status: Help
Currently open
Eligibility criteria: Help
Individuals with eye conditions and their family members are eligible.
Consent form: Help
Not provided
Conditions Help
Total conditions: 3
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 2
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Total methods: 2
Method Category Help
Test method Help
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina HiSeq™2000 system
Technical Information
Recommended fields not provided:
Additional Information

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