I researched a recent study performed by the Consortium

for Refraction and Myopia and published in Nature

Genetics, where they investigated the specific genes causing
refractive errors.

Refractive errors, which are errors in focusing light, are the
leading cause of visual impairment in the world. Myopic
sufferers have longer eyeballs, and the light focuses slightly
short of the retina. Consequently, the individual gets an out-
of-focus and blurred image of the object he or she is looking
at.

the main problem at the moment is that there is a lack of
knowledge as to the specific loci causing myopia a locus is
is the specific location of a DNA sequence on a chromosome.
; the previously known loci were not significant enough to
advance our study in terms of shedding light on prevention
and/or treatment.

So the researchers in this study performed a genome-wide
association study- which basically involves taking a sample
of DNA then studying the millions of different genetic
variations in the human genome contained in the sample.
Eligible participants underwent a complete
ophthalmological examination, including a non-dilated
measurement of refractive error for both eyes. Exclusion
criteria were all conditions that could alter natural
refraction, like cataract surgery, laser refractive
procedures, retinal detachment surgery,

They identified 24 new single nucleotide polymorphisms
or SNPs( which are variations in a single DNA base)
associated with refractive error. The
People identified as being at high genetic risk (with the
identified SNPs) were found to be ten times more likely to
develop short-sightedness.

The genes which were identified, actually are involved with
a broad range of functions within the eye, such as a gene
which plays a role in the extracellular structure of the eye,
and genes involved in eye development and
neurotransmission.
This led the researchers to infer that there are multiple
pathways to myopia, which means that the condition is in
fact very complex. The findings advance understanding of
the development of myopia and may in future allow doctors
to predict with far greater accuracy who is likely to develop
the condition.
The study was carried out on subjects from both Asian and
eurpoean backgrounds. What they found from this was a
significant overlap in the SNPs identified for refractive
error- suggesting that there are some shared risk factors
between the population groups.

Although this is exciting research, contrary to some of the
headlines, treatments or prevention strategies are likely to
be a long way off. The genes discovered in the study only
account for 3.4 per cent of the variation in myopia, meaning
there are still a huge number of unexplored factors both
genetic and environmental - that contribute to development
of the condition.

Nevertheless this is significant research into an area which
requires more investigation- myopia affects around 30% of
western populations and 80% of Asian populations. The
discovery of genetic variants can feed into research into
how errors in focusing light develop. Once this is better
understood, it is hoped that treatments can then be
developed.