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High myopia often appears as a familial disease. It is usually defined as a refraction error equal to or below −6 diopters (D) in each eye.1 Highly myopic patients represent 27-33% of the myopic population.2 The prevalence of the disease in the general population varies according to the country, from 2.1% in the USA,2 to 3.2% in France,3 and up to 9.6% in Spain.3 High myopia is also termed “pathological” myopia because of its potential complications. The highly myopic eye is usually characterised by an abnormal lengthening and a posterior staphyloma. It is often accompanied by glaucoma, cataracts, macular degeneration, and retinal detachment, leading to blindness when the damage to the retina is extremely severe.
Both genetic and environmental factors, such as close work, are known to play a role in the aetiology of high myopia. The inheritance of the disease is equivocal. Several genealogical studies have shown autosomal dominant or autosomal recessive modes of inheritance.4,5 Rare cases of sex linked transmission have been observed.6
In a previous study,7 we showed that, assuming a single gene model, autosomal dominant transmission with weak penetrance was largely present in the families that we studied. Young et al have recently reported linkage of familial high myopia to chromosome regions 18p8 and 12q.9 We previously found no evidence for linkage to the former chromosomal region in the families of our study. Several putative candidate loci were excluded as well in these families, such as the locus for Stickler syndrome types 1 and 2, versican and aggregan genes, Marfan 1 syndrome, and a Marfan-like disorder localised to 3p24.2-p25.
In order to find new loci implicated in high myopia, we conducted a genome screen in 23 families following an autosomal dominant mode of inheritance with …