Gene Therapy May Cure Myopia

A team of molecular geneticists has identified a gene locus that seems to control the development of myopia, an important cause of visual impairment (when aberrant) and a highly heritable trait.

Investigators at King's College London (United Kingdom) initially screened 4,270 individuals from a well-studied cohort of twins. They identified SNPs (single-nucleotide polymorphisms) at the chromosome location 15q25 that associated with refractive error. This finding was then replicated in six adult cohorts of European ancestry with a combined 13,414 individuals. This locus overlapped with the transcription initiation site of the gene RASGRF1.

To elucidate the role of RASGRF1, the investigators genetically engineered a line of mice to lack this gene. They reported in the September 12, 2010, online edition of the journal Nature Genetics that these mice showed a heavier than average crystalline lens.

These findings open the possibility of developing gene therapy for myopia. The eye is especially well suited for a gene therapy approach, as its small volume and self-contained area would allow the therapeutic agent to remain inside the eye in a concentrated volume.

Senior author Dr. Christopher Hammond, professor of genetic epidemiology at King's College London, said, "It is not quite the end of glasses yet, but clearly the hope is that we will be able to block the genetic pathways that cause short-sightedness.”

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