What is it about?
Microphthalmia is a disease of eye, in which the eye ball has a restricted growth. Several mechanisms have been reported to be responsible for it. In this study we find few novel genetic variations to be causally associated with disease in humans.
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Why is it important?
Our findings added a new spectrum of genetic variation to the existing knowledge, especially genetic variations at a specific loci of SOX2 gene. This particular loci and or variation is responsible for different phenotypic changes.
Perspectives
The research on this problem was very exciting as it was the base for a doctoral degree of one of my research student. Based on the research outcome and publication, my student could able to submit her thesis for her doctoral degree. The journey on this research topic was very inspirational as we learned lots of information.
Rajkumar Sankaranarayanan
Aditya Jyot Foundation For Twinkling Little Eyes
Read the Original
This page is a summary of: Genetic investigation of ocular developmental genes in 52 patients with anophthalmia/microphthalmia, Ophthalmic Genetics, February 2018, Taylor & Francis,
DOI: 10.1080/13816810.2018.1436184.
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