Genetic Causes of Eye Disease Revealed: Study

Novel mice study uncovers the genetic causes of eye disease which could enable new therapies for hereditary eye disease in the future.

Hundreds of new genes associated with blindness and other vision disorders have been recognized in a screen of mouse strains, reports a new study. The findings of the study are published in the journal Nature Communications Biology.

According to researchers, many of these genes are likely important in human vision, and the results could help identify new causes of hereditary blindness in patients.

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‘Three hundred blind mice unveil genetic causes of eye disease. The new genetic information can also enable new treatments for hereditary 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, the research team combed the consortium database for genes linked to eye and vision defects.

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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.

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"In 2018, if someone has a form of hereditary blindness, we can identify the cause 50 to 75 percent 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 centers that do DNA sequencing can call back patients and screen them for these new genes," Moshiri added.

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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.

Source-IANS