De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy.

X-linked cone dysfunction disorders such as Blue Cone Monochromacy and X-linked Cone Dystrophy are characterized by complete loss (of) or reduced L- and M- cone function due to defects in the OPN1LW/OPN1MW gene cluster. Here we investigated 24 affected males from 16 families with either a structurally intact gene cluster or at least one intact single (hybrid) gene but harbouring rare combinations of common SNPs in exon 3 in single or multiple OPN1LW and OPN1MW gene copies. We assessed twelve different OPN1LW/MW exon 3 haplotypes by semi-quantitative minigene splicing assay.

Contributions of local orientation and position features to shape integration.

Contour integration plays an important role in linking local elements into global shape and the binding strength among local elements depends on both orientation and position features. The very high sensitivity reported for detecting the sinusoidal deformation of circular contours may result from the presence and concordance of both orientation and position cues to shape difference. In this study, position and orientation-defined micropatch-sampled radial frequency (MSRF) patterns were employed, which permit the independent assessment of the contributions of local orientation and position features to shape integration.

Maturation of visual acuity is accelerated in breast-fed term infants fed baby food containing DHA-enriched egg yolk.

Between 6 and 12 mo of age, blood levels of the (n-3) long-chain PUFA, docosahexaenoic acid (DHA), in breast-fed infants typically decrease due to diminished maternal DHA stores and the introduction of DHA-poor solid foods displacing human milk as the primary source of nutrition. Thus, we utilized a randomized, clinical trial format to evaluate the effect of supplemental DHA in solid foods on visual development of breast-fed infants with the primary outcome, sweep visual-evoked potential (VEP) acuity, as an index for maturation of the retina and visual cortex. At 6 mo of age, breast-fed infants were randomly assigned to receive 1 jar (113 g)/d of baby food containing egg yolk enriched with DHA (115 mg DHA/100 g food; n = 25) or control baby food (0 mg DHA; n = 26).

Oxidative stress-induced mitochondrial DNA damage in human retinal pigment epithelial cells: a possible mechanism for RPE aging and age-related macular degeneration.

Oxidative stress is believed to contribute to the pathogenesis of many diseases, including age-related macular degeneration (AMD). Although the vision loss of AMD results from photoreceptor damage in the central retina, the initial pathogenesis involves degeneration of RPE cells. Evidence from a variety of studies suggests that RPE cells are susceptible to oxidative damage.

Standardized full-field electroretinography. Normal values and their variation with age.

Full-field electroretinograms were obtained in 269 normal subjects with the International Standardization Protocol endorsed by the International Society for Clinical Electrophysiology of Vision and the National Retinitis Pigmentosa Foundation Inc. Log rod and cone amplitudes decreased exponentially with age in adults; amplitudes declined to one half those in the young adult level (ages 15 to 24 years) by ages 69 and 70 years for rod and cone responses, respectively. B-wave implicit times increased with age for all responses.

Retinal development in very-low-birth-weight infants fed diets differing in omega-3 fatty acids.

Full-field electroretinograms (ERGs) were obtained from very-low-birth-weight (VLBW) neonates to determine whether omega-3 (omega-3) fatty acids are essential for normal human retinal development. Eighty-one infants born at 30.4 (standard deviation, +/- 1.

Color vision screening of young children.

Early detection of congenital color vision defects is desirable, but school screening studies have been stymied by lack of a suitable test. We evaluated a new color vision test, the APT-5, for use by volunteer screeners in schools and preschools. The screeners tested 1794 children, ages 3 to 13 years, and found the APT-5 easy to use with young children ages 5 years and up.

Visual outcome in infants with cicatricial retinopathy of prematurity.

Monocular grating acuities of preterm infants with retinopathy of prematurity (ROP) were measured using a forced-choice preferential-looking (FPL) procedure. Eyes were independently graded by a retinal specialist and/or pediatric ophthalmologist and assigned to anatomic outcome categories on the basis of cicatricial residua of ROP. Eyes assigned to the normal/regressed and peripheral retinal changes categories (n = 120) had normal posterior poles.