New genes linked to blindness and other vision disorders identified

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Researchers uncover genetic causes of eye disease. “This is extremely valuable for people with hereditary eye disease,” said co-author Ala Moshiri, Associate Professor at the UC, Davis, School of Medicine and Eye Center.

“The whole ophthalmic community is going to start using these data,” Moshiri added.

For the study, published in the journal, ‘Nature Communications Biology’, the research team combed the consortium database for genes linked to eye and vision defects.

They identified 347 genes, of which 86 were either well-established as involved in eye disease or were associated with vision in some way.

Three-quarters of the genes — 261 — were not previously known to cause eye disease in any species, according to the research team.

“In 2018, if someone has a form of hereditary blindness, we can identify the cause 50 to 75 per cent of the time,” Moshiri said.

“In the remaining cases, we know the mutation is there but we don’t know where to look. Now eye centres that do DNA sequencing can call back patients and screen them for these new genes,” Moshiri added.

The team also said that the new genetic information could also enable new therapies for hereditary eye disease.

“We expect that more and more of these genetic diseases will be treatable,” Moshiri noted.