Myopia and Late-Onset Progressive Cone Dystrophy Associate to LVAVA/MVAVA Exon 3 Interchange Haplotypes of Opsin Genes on Chromosome X.

Purpose: Rare interchange haplotypes in exon 3 of the OPN1LW and OPN1MW opsin genes cause X-linked myopia, color vision defect, and cone dysfunction. The severity of the disease varies on a broad scale from nonsyndromic high myopia to blue cone monochromatism. Here, we describe a new genotype-phenotype correlation attributed to rare exon 3 interchange haplotypes simultaneously present in the long- and middle-wavelength sensitive opsin genes (L- and M-opsin genes).

Observer experience improves reproducibility of color Doppler sonography of orbital blood vessels.

Purpose: The study investigated the reproducibility of orbital blood flow measurements with color Doppler imaging (CDI) at different stages of observer experience.

Methods: The subjects were 31 healthy volunteers and 2 sequential groups of 25 glaucoma patients each. Repeated blood flow measurements (usually 3 sets) in orbital vessels (ophthalmic artery, short posterior ciliary arteries, central retinal artery, and central retinal vein) were performed by the same observer in a single session in each subject.