A team of scientists led by the University of Edinburgh have discovered a genetic link to ocular coloboma, shedding light on causes of the condition and helping to explain how genes contribute to the development of the eye.
For their study, the research team reportedly used whole exome sequencing to look at the DNA of children with coloboma and their unaffected parents. The sequencing reportedly revealed mutations in 10 genes, three of which were linked to activity of one molecule called actin, which according to researchers is important to a number of vital cell functions including maintenance of the cytoskeleton. Researchers also found one of the mutations -- a specific alteration in the gene ACTG1 -- recurred in a number of those tested.
The scientists reportedly believe the newly-identified mutations affect how actin binds to other proteins and on actin stability, which would severely affect development of the eye in the womb.
The study was recently published in the journal Human Mutation.
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Source: University of Edinburgh