Researchers pinpoint gene responsible for ‘keyhole’ eye defects

An international group of researchers has identified the genetic cause of a rare developmental eye disorder

25 Jun 2015 by Ryan O'Hare

An international group of researchers has uncovered the genetic cause of a rare eye condition affecting newborn babies.

Inherited retinal dystrophy associated with ocular coloboma causes gaps to form in certain eye structures during their development, often resembling a keyhole shape in the iris or retina, with varying effects on vision depending on its locality and severity. It is part of a larger group of developmental conditions which may affect vision in as many as one in 4,000 people in the Western world.

Through studying five generations of a large family with varying forms of coloboma, a team of researchers from the Manchester Centre for Genomic Medicine (MCGM) at St Mary’s Hospital in Manchester and the Telethon Institute of Genetics and Medicine (TIGEM) in Italy, were able to pinpoint the genetic cause of the condition.

They identified a previously unrecorded mutation in a single gene, called miR-204, encoding a small strand of RNA which plays a role in the expression of other genes. According to the researchers, the results highlight the importance of such microRNAs as “master regulators” of normal development and maintenance of the eye.

One of the study’s principal investigators and strategic director at the MCGM, Professor Graeme Black, said: “Around 200 genes have previously been linked to inherited developmental and degenerative genetic disorders. For the first time, we’ve been able to demonstrate the importance of the miR-204 gene in the regulation of ocular development and maintenance, and of its contribution to eye disease.”

He added: “This discovery provides a clearer understanding of the control of early eye development as well and helping to improve diagnosis for patients with this condition and possibly other inherited eye disorders.”

Co-principal investigator, Professor Sandro Banfi of the TIGEM, said: “This is an extraordinary result that sheds further light on the role of microRNAs, very tiny genes that have been recently discovered, as primary causes of genetic diseases. This success would not have been possible without the collaboration between our two research groups.”

The research was funded by charities RP Fighting Blindness and Fight for Sight. Engagement manager at RP Fighting Blindness, Sue Drew, said: “It's very exciting to see such progress being made in the project.”

Ms Drew added: “We're delighted to see scientific collaboration delivering real results for retinal dystrophy research which has increased understanding of genetic disease, and will aid diagnosis in the future. We anticipate further exciting developments being made and hope this project will show the huge benefits of collaborative research.”

The findings are published in the journal PNAS.

Image credit: Caroline Davis


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