Identification of two novel mutations in families with X-linked ocular albinism.

Purpose: Our goal was to evaluate the OA1 gene, also known as G-protein coupled receptor 143 (GPR143), in two United States families, one from the mid-west and one from the mid-south, who had clinical features of X-linked ocular albinism. Both families had previously tested negative for mutations.

Methods: Selected family members underwent a detailed ophthalmologic evaluation.

Fundus albipunctatus in a 6-year old girl due to compound heterozygous mutations in the RDH5 gene.

We report a case study of Fundus Albipunctatus (FA) due to compound heterozygous mutations in RDH5, the gene encoding for the 11-cis-retinal dehydrogenase (RDH). A 6-year old Hispanic American female with a clinical presentation suggestive of FA underwent dark-adapted full-field flash electroretinography (ERG) at 30 and 120 min. The pattern of ERG abnormalities was consistent with the working diagnosis FA.

Macular pigment optical density in the elderly: findings in a large biracial Midsouth population sample.

Purpose: To report the macular pigment optical density (MPOD) findings at 0.5 degrees of eccentricity from the fovea in elderly subjects participating in ARMA, a study of aging and age-related maculopathy (ARM) ancillary to the Health, Aging, and Body Composition (Health ABC) Study.

Methods: MPOD was estimated with a heterochromatic flicker photometry (HFP) method in a large biracial population sample of normal 79.

Estimation of macular pigment optical density in the elderly: test-retest variability and effect of optical blur in pseudophakic subjects.

The reproducibility of macular pigment optical density (MPOD) estimates in the elderly was assessed in 40 subjects (age: 79.1+/-3.5).