Genetic analysis using next-generation sequencing and multiplex ligation probe amplification in Chinese aniridia patients.

Abstract excerpt

BACKGROUND: Congenital aniridia is a rare pan-ocular disease characterized by complete irideremia, partial iridocoloboma. The progressive nature of aniridia is frequently accompanied by secondary ocular complications such as glaucoma and aniridia-associated keratopathy, which can lead to severely impaired vision or blindness. The genetic basis of aniridia has been the subject of numerous studies, leading to the...

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• Aniridia
• China
• East Asian People
• Forkhead Transcription Factors
• Genetic Testing