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Need for eye surgery in patients of genetic disorders

The need for sufferers of genetic diseases to undergo eye surgery in the event of vision loss is partly explained by a recent study.

A report in the latest edition of Nature Genetics has looked at a study conducted by researchers drawn from institutions around the world, including Baylor College of Medicine (BCM).

The scientists identified the role of a gene labelled RPGRIP1L, which could hold the key to the cause of gene mutations affecting the cilia found in patients suffering a range of genetic conditions.

Dr Richard Lewis, a report author and professor of ophthalmology, medicine, pediatrics, and molecular and human genetics at BCM, commented: "When you look at a disorder such as Bardet-Biedl Syndrome with multiple features ... you wonder how a single gene can interact or influence the expression of the other 25,000 or so genes that humans have."

He added that the slightest impingement on the elevator that transports material from one section of the cell to another will impact the disorder.

Bardet-Biedl syndrome is a genetic condition that is characterised by symptoms such as mental retardation, obesity, retinitis pigmentosa and polydactyly.

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Need for eye surgery in patients of genetic disorders
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