Current opinion in ophthalmology · 2011
The genetics of anophthalmia and microphthalmia.
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Bardakjian Tanya M, Schneider Adele
Аннотация
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.
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.
Предметные рубрики MeSH
AnophthalmosDNA Mutational AnalysisEye ProteinsFemaleForkhead Transcription FactorsHomeodomain ProteinsHumansMicrophthalmosMutationOtx Transcription FactorsPAX6 Transcription FactorPaired Box Transcription FactorsPregnancyRepressor ProteinsSOXB1 Transcription FactorsTranscription FactorsTransforming Growth Factor beta