A decade in search of myopia genes.

Nearly half of visual impairment in the world is caused by uncorrected refractive errors, and myopia constitutes a significant proportion of this problem. Moreover, the prevalence of myopia is increasing, especially in Asian countries. Linkage studies have identified at least 18 possible loci (MYP) in 15 different chromosomes associated with myopia, although some of these remain to be confirmed.

Refinement of the MYP3 locus on human chromosome 12 in a German family with Mendelian autosomal dominant high-grade myopia by SNP array mapping.

Myopia, or short-sightedness, is the most common form of vision disorder worldwide. Higher levels of myopia, usually defined as an axial eye length of >26 mm or a refractive error of < -5.00 diopters are often designated as 'pathologic' myopia, because of the predisposition to develop further eye disorders such as retinal detachment, macular degeneration, cataract, or glaucoma.

Population haplotypes of exon ORF15 of the retinitis pigmentosa GTPase regulator gene in Germany : implications for screening for inherited retinal disorders.

Background: Mutations in exon ORF15 of the retinitis pigmentosa GTPase regulator gene (RPGR) within chromosomal region Xp21.1 are a significant cause of a number of retinal disorders. The high mutation rate is ascribed to the highly repetitive, purine-rich tracts within the exon ORF15 sequence.

Mutational risk in highly repetitive exon ORF15 of the RPGR multidisease gene is not associated with haplotype background.

Exon ORF15 is an alternative exon in the retinitis pigmentosa GTPase regulator (RPGR) gene containing a highly repetitive, purine-rich internal region. It constitutes a mutational hot spot giving rise to a group of heterogeneous X-linked retinal disorders. We sought to determine whether non-pathogenic substitutions and sequence length variations in the repetitive sequence have an influence on the risk of pathogenic exon ORF15 mutations.

A novel CACNA1F mutation in a french family with the incomplete type of X-linked congenital stationary night blindness.

Purpose: To describe a French family with the incomplete type of X-linked congenital stationary night blindness (CSNB2) associated with a novel mutation in the retina-specific calcium channel alpha(1) subunit gene (CACNA1F).

Design: Interventional case report.

Methods: Two family members with a history of nonprogressive night blindness and subnormal visual acuity were clinically examined and the genotype determined by molecular genetic analysis.

Multifocal intraocular lens implantation in patients with traumatic cataract.

Objective: To evaluate the postoperative outcome and complication rate of cataract extraction with implantation of a zonal-progressive multifocal intraocular lens (IOL) for traumatic cataract.

Design: Prospective, nonrandomized, comparative trial.

Participants: Fifty-one eyes of 51 subjects with traumatic cataract caused by nonpenetrating, penetrating, and perforating ocular trauma at two university institutions with more than 12 months follow-up.

Scleral fixation of secondary foldable multifocal intraocular lens implants in children and young adults.

Objective: To assess the feasibility of transscleral fixation of a foldable, multifocal intraocular lens (IOL) as an alternative form of optical correction to monofocal IOL implantation in aphakic children and young adults intolerant of contact lenses in the absence of sufficient capsular support.

Study Design: Prospective, nonrandomized, comparative trial.

Participants: Twenty-six eyes of 26 unilateral aphakic patients in the age group 6 to 29 years (mean, 13.

Ten novel ORF15 mutations confirm mutational hot spot in the RPGR gene in European patients with X-linked retinitis pigmentosa.

RGPR was the first gene found to be mutated in XLRP, the subtype of RP displaying the most severe form of retinal degeneration with partial or complete blindness in the third or fourth decade of life. Despite the RP3 locus on Xp21.1 accounting for 60-90% of XLRP, only 10-20% of identified RPGR mutations were reported in earlier analyses.

Phenotypic expression of the complete type of X-linked congenital stationary night blindness in patients with different mutations in the NYX gene.

Purpose: To describe the clinical phenotype of the complete type of X-linked congenital stationary night blindness (CSNB1) with different types of mutations in the NYX gene.

Methods: The clinical and genetic data from 18 male patients with eight different mutations from two ophthalmological institutes were reviewed. The variability in refractive error, reduced visual acuity and full-field electroretinogram (ERG) recordings was examined.

Multifocal intraocular lens implantation in prepresbyopic patients with unilateral cataract.

Objective: To evaluate the benefits of implantation of a zonal-progressive multifocal intraocular lens (IOL) in prepresbyopic patients with unilateral cataract.

Study Design: Prospective, nonrandomized, comparative trial.

Participants: Ninety-five eyes of 95 prepresbyopic patients aged between 14 and 40 years with either multifocal or monofocal IOL implantation at two institutions and with more than 6 months follow-up.