Abstract
Purpose of review:
To summarize recent breakthroughs regarding the genes known to play a role in normal ocular development in humans and to elucidate the role mutations in these genes play in anophthalmia and microphthalmia.
Recent findings:
The main themes discussed within this article are the various documented genetic advances in identifying the various causes of anophthalmia and microphthalmia. In addition, the complex interplay of these genes during critical embryonic development will be addressed.
Summary:
The recent identification of many eye development genes has changed the ability to identify a cause of anophthalmia and microphthalmia in many individuals. Syndrome identification and the availability of genetic testing underscores the desirability of evaluation by a geneticist for all individuals with anophthalmia and microphthalmia in order to provide appropriate management, long-term guidance, and genetic counseling.
MeSH terms
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Anophthalmos / embryology
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Anophthalmos / etiology
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Anophthalmos / genetics*
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DNA Mutational Analysis
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Eye Proteins / genetics
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Female
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Forkhead Transcription Factors / genetics
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Homeodomain Proteins / genetics
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Humans
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Microphthalmos / embryology
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Microphthalmos / etiology
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Microphthalmos / genetics*
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Mutation / genetics
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Otx Transcription Factors / genetics
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PAX6 Transcription Factor
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Paired Box Transcription Factors / genetics
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Pregnancy
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Repressor Proteins / genetics
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SOXB1 Transcription Factors / genetics
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Transcription Factors / genetics*
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Transforming Growth Factor beta / genetics
Substances
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Eye Proteins
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FOXE3 protein, human
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Forkhead Transcription Factors
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Homeodomain Proteins
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OTX2 protein, human
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Otx Transcription Factors
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PAX6 Transcription Factor
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PAX6 protein, human
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Paired Box Transcription Factors
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RAX protein, human
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Repressor Proteins
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SOX2 protein, human
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SOXB1 Transcription Factors
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Transcription Factors
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Transforming Growth Factor beta