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Eye development genes and known syndromes.

Anne M Slavotinek1

  • 1Department of Pediatrics, Division of Genetics, University of California, San Francisco, San Francisco, CA 94143-0748, USA. slavotia@peds.ucsf.edu

Molecular Genetics and Metabolism
|October 19, 2011
PubMed
Summary

Anophthalmia and microphthalmia (A/M) are severe eye conditions often linked to genetic syndromes. Recognizing these syndromes aids in diagnosis, prognosis, and genetic counseling for affected families.

Area of Science:

  • Ophthalmology
  • Genetics
  • Developmental Biology

Background:

  • Anophthalmia and microphthalmia (A/M) are congenital eye malformations significantly impacting visual acuity.
  • A/M frequently co-occurs with non-ocular abnormalities, with approximately 25% of cases linked to diagnosable genetic syndromes.

Purpose of the Study:

  • To review common genetic syndromes associated with A/M.
  • To provide clinical and molecular details for syndromic A/M.
  • To highlight the importance of syndrome recognition for genetic testing and counseling.

Main Methods:

  • Literature review of genetic syndromes associated with A/M.
  • Compilation of clinical and molecular data for specified genes and syndromes.
  • Brief discussion of other relevant eye developmental genes.

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Main Results:

  • Detailed information on Anophthalmia-Esophageal-Genital syndrome (SOX2), OTX2-associated A/M, Matthew-Wood syndrome (STRA6), oculofaciocardiodental syndrome/Lenz microphthalmia (BCOR), Microphthalmia Linear Skin pigmentation syndrome (HCCS), BMP4-associated A/M, and Waardenburg anophthalmia (SMOC1).
  • Ocular and extraocular phenotypes linked to GDF6, VSX2, RAX, SHH, SIX6, and PAX6 are also discussed.

Conclusions:

  • Syndrome recognition in A/M is crucial for accurate diagnosis, prognosis, and genetic counseling.
  • Understanding the genetic basis of A/M aids in targeted molecular testing and management strategies.
  • This review consolidates key information on genetic syndromes causing A/M, serving as a resource for clinicians and researchers.