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Genetic profile of Myopia (nearsightedness)

Eyecare professionals have debated the role of genetics in the development of myopia for many years. Some believe that a tendency toward myopia may be inherited, but the actual disorder results from a combination of environmental and genetic factors. Environmental factors include close work; work with computer monitors or other instruments that emit some light (electron microscopes, photographic equipment, lasers, etc.); emotional stress; and eye strain.
 

Normal eye:	Myopic eye:

A variety of genetic patterns for inheriting myopia have been suggested. One explanation for lack of agreement is that the genetic profile of high myopia (defined as a refractive error greater than -6 diopters) may differ from that of low myopia. Some researchers think that high myopia is determined by genetic factors to a greater extent than low myopia.

Another explanation for disagreement regarding the role of heredity in myopia is the sensitivity of the human eye to very small changes in its anatomical structure. Since even small deviations from normal structure cause significant refractive errors, it may be difficult to single out any specific genetic or environmental factor as their cause.

Since 1992, genetic markers that may be associated with genes for myopia have been located on some human chromosomes. There is some genetic information on one of the chromosomes in highly myopic people. Genetic information for low myopia appears to be located on another chromosome, but it is not known whether this information governs the structure of the eye itself or vulnerability to environmental factors.

In 1998 a team of American researchers presented evidence that a gene for familial high myopia with an autosomal dominant transmission pattern could be mapped to human chromosome 18 in eight North American families. The same group also found a second locus for this form of myopia on human chromosome 12 in a large German/Italian family. In 1999 a group of French researchers found no linkage between chromosome 18 and 32 French families with familial high myopia. These findings have been taken to indicate that more than one gene is involved in the transmission of the disorder.

It has been known for some years that a family history of myopia is one of the most important risk factors for developing the condition. Only 6%-15% of children with myopia come from families in which neither parent is myopic. In families with one myopic parent, 23%-40% of the children develop myopia. If both parents are myopic, the rate rises to 33%-60% for their children. One American study found that children with two myopic parents are 6.42 times as likely to develop myopia themselves as children with only one or no myopic parents. The precise interplay of genetic and environmental factors in these family patterns, however, is not yet known.

One multigenerational study of Chinese subjects indicated that subjects in the third generation had a higher risk of developing myopia even if their parents were not myopic. The researchers concluded that, at least in China, the genetic factors in myopia have remained constant over the past three generations while the environmental factors have intensified. The increase in the percentage of people with myopia over the last 50 years in the United States has led American researchers to the same conclusion.

The debate continued with more recent reports. In the summer of 2004, one report said that scientists were close to identifying the myopia gene, located on chromosome 11. Another report reviewed several studies and claimed that lifestyle was to blame for myopia. For instance, a study found that 80% of 14- to 18-year old boys studying in schools in Israel that emphasize reading religious texts have myopia, while the rates for boys in state school was just 30%. It is likely that genes and environment play a role.

Myopia is the most common eye disorder in humans around the world. It affects between 25% and 35% of the adult population in the United States and the developed countries, but is thought to affect as much as 40% of the population in some parts of Asia. Some researchers have found slightly higher rates of myopia in women than in men.

The age distribution of myopia in the United States varies considerably. Five-year-olds have the lowest rate of myopia (less than 5%) of any age group. The prevalence of myopia rises among children and adolescents in school until it reaches the 25%-35% mark in the young adult population. It declines slightly in the over-45 age group; about 20% of 65-year-olds have myopia. The figure drops to 14% for Americans over 70.

Other factors that affect the demographic distribution of myopia are income level and education. The prevalence of myopia is higher among people with above-average incomes and educational attainments. Myopia is also more prevalent among people whose work requires a great deal of close focusing, including work with computers.