Purpose To identify causal gene mutations in 14 families with autosomal dominant (AD) high myopia using exome sequencing. Methods Select individuals from 14 large Caucasian families with high myopia were exome sequenced. Gene variants were filtered to identify potential pathogenic changes. Sanger sequencing was used to confirm variants in original DNA, and to test for disease cosegregation in...

Myopia is the most common ocular disorder worldwide, and high myopia in particular is one of the leading causes of blindness. Genetic factors play a critical role in the development of myopia, especially high myopia. Recently, the exome sequencing approach has been successfully used for the disease gene identification of Mendelian disorders. Here we show a successful application of exome sequen...

Globally, myopia is the leading cause of distance refractive error, affecting 1.45 billion or 27% of the world’s population in 2010 (myopia being defined as more than or equal to 0.50 D of myopia).1 The number of people with myopia is expected to continue to rise both in absolute numbers and as a percentage of the population.2 In certain age groups in several Asian countries, the prevalence of ...

PURPOSE To investigate the changes of posterior corneal elevation after small incision lenticule extraction (SMILE) for moderate and high myopia. METHODS In this prospective study, fifty consecutive eyes of thirty patients (10 male, 20 female) who underwent SMILE for myopia and myopic astigmatism were included. Eyes were divided in two groups based on the preoperative spherical equivalent ref...

BACKGROUND The safety and predictability of refractive surgery for all degrees of myopia is now becoming established. It is therefore appropriate to evaluate whether there is a patient driven demand for such treatments and, if so, to establish guidelines for its provision within the National Health Service (NHS). METHODS A comparative study was designed to assess the effect of degree of myopi...

Aim: To elucidate the optical basis for unilateral high myopia and to identify the factors associated with its development. Methods: Medical records of 48 children (aged 4 months to 17 years; mean age 6.8 years) with unilateral high myopia (5 dioptres or more) seen consecutively by the author during a 15 year period were reviewed. 45 (94%) of the 48 patients had unilateral axial myopia. Results...

PURPOSE We investigated the association of genetic variations, which were identified recently in a large-scale genome-wide association study (GWAS) to confer risk of refractive error and common myopia in Caucasians, with high myopia in Japanese subjects. METHODS The 5 single-nucleotide polymorphisms (SNPs) from the 5 genes TOX, RDH5, ZIC2, RASGRF1, and SHISA6, were genotyped in 1339 unrelated...

PURPOSE We investigated the independent impact of potential risk factors on myopia in young adults. METHODS A survey study was conducted with male military conscripts aged 18 to 24 years between February 2010 and March 2011 in Taiwan. The participants were examined using non-cycloplegic autorefraction and biometry. The participants provided data about potential risk factors, including age, pa...

Myopia has become epidemic in the world. Without effective control, the progression may lead to excessive myopia with severe complications affecting vision and ocular alignment. The genetic factors and environmental factors of myopia are closely interrelated to each other. Asian ethnicity and parental myopia, among other genetic factors, influence the refractive outcome dramatically when enviro...

PURPOSE The objective of this study was to investigate whether genetic variations in the paired box 6 (PAX6) gene are associated with high myopia in Japanese subjects. METHODS A total of 1,307 unrelated Japanese patients with high myopia (axial length ≥26 mm in both eyes) and two independent control groups were evaluated (333 cataract patients without high myopia and 923 age-matched healthy J...