Purpose To identify and collect pedigrees aff ected with high myopia from an homogeneous ethnic group (San Peter island population, Sardinia). Methods Families with at least one member aff ected by high myopia (6 diopters or more) since early childhood have been screened clinically (subjective and objective refraction, slit lamp, US biometry, corneal topography, fundoscopy) in order to evaluate the distribution and pattern of inheritance of the trait. Blood samples from suitable families have been collected for DNA extraction and DNA genotyping. Results We identifi ed 15 families in which high myopia is transmitted as autosomal dominant trait. Two main phenotypes have been observed: a pure spherical myopic defect, and an compound myopic astigmatic defect. Unilateral cases have also been included. Conclusion Preliminary DNA examination demonstrated close linkage between D18S63 marker and high myopia. Our results provide additional evidence that high myopia is sustained by a genetic background.
Clinical and genetic study of myopia in St. Peter island (Sardinia)
ZUCCA, IGNAZIO ALBERTO;GALANTUOMO, MARIA SILVANA;FOSSARELLO, MAURIZIO
2006-01-01
Abstract
Purpose To identify and collect pedigrees aff ected with high myopia from an homogeneous ethnic group (San Peter island population, Sardinia). Methods Families with at least one member aff ected by high myopia (6 diopters or more) since early childhood have been screened clinically (subjective and objective refraction, slit lamp, US biometry, corneal topography, fundoscopy) in order to evaluate the distribution and pattern of inheritance of the trait. Blood samples from suitable families have been collected for DNA extraction and DNA genotyping. Results We identifi ed 15 families in which high myopia is transmitted as autosomal dominant trait. Two main phenotypes have been observed: a pure spherical myopic defect, and an compound myopic astigmatic defect. Unilateral cases have also been included. Conclusion Preliminary DNA examination demonstrated close linkage between D18S63 marker and high myopia. Our results provide additional evidence that high myopia is sustained by a genetic background.
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