Genetic mutation that results in vision loss named after Irish poet

Researchers from the University College Dublin (UCD) Conway Institute have described a genetic mutation that causes major visual problems in zebrafish.

Writing in the Federation of American Societies for Experimental Biology Journal, scientists described how zebrafish with a mutation in the emc1 gene had severe visual impairments.

Zebrafish with this genetic abnormality had a thinner photoreceptor layer and large gaps surrounding the lens.

Dr Tess McCann, a postdoctoral researcher at UCD, highlighted that the research illustrates the “vital role” of emc1 in vision.

Zebrafish with a mutation in this gene did not react to visual tests, McCann shared.

“The eye cells in these zebrafish were thinner and had unusual shapes. Genes needed to help the eye process light signals weren’t working as they should,” she said.

The group of zebrafish with an emc1 mutation were characterised by researchers as raifteirí (raf) zebrafish – named after the 18^th century Irish language poet, Antoine Ó Raifteirí, who lost his vision in childhood.

The first four lines of his poem ‘Mise Raifteirí an File’ appeared on the reverse of the Irish £5 note (I am Raifteirí, the poet/ full of hope and love/ with eyes without light/ silence without torment).

Professor Breandan Kennedy, from UCD School of Biomolecular & Biomedical Science and UCD Conway Institute, shared that his team is planning further research to understand the effects of this mutation and develop therapeutic approaches.

“We now have opportunities to investigate the potential effects of emc1 gene mutations that have been linked to human patients but have yet to be experimentally confirmed. We can also use pharmacological compounds identified previously by our team to see if vision can be restored,” he said.