Macular pigment and lutein supplementation in choroideremia.

Choroideremia is an incurable X-linked retinal degeneration caused by mutations in the gene encoding Rab escort protein-1. A group of clinically defined and genotyped patients were studied to determine: (1) the degree of rod and cone dysfunction and structural abnormality in the central retina and the level of macular pigment; and (2) the response of macular pigment and foveal vision to a 6 month trial of supplementation with oral lutein (at 20 mg per day). Rod and cone-mediated function was measured with dark-adapted static perimetry; in vivo retinal structure was determined with optical coherence tomography; and macular pigment optical density was measured with heterochromatic flicker photometry. In this cohort of patients (ages 15-65 years), both rod- and cone-mediated central function declined with age as did central retinal thickness. Macular pigment levels did not differ between patients and male control subjects. Supplementation of oral lutein in a subset of patients led to an increase in serum lutein and macular pigment levels; absolute foveal sensitivity did not change. It is concluded that macular pigment density can be augmented by oral intake of lutein in patients with choroideremia. There was no short-term change in the central vision of the patients on the supplement, but long-term influences of lutein supplementation on disease natural history warrant further study.

Age-Related Increases in Photopic Increment Thresholds Are Not Due to an Elevation in Intrinsic Noise.

Threshold vs. intensity (tvi) functions were measured under conditions in which the slope of the rising branch approximated the deVries-Rose law in order to evaluate the contribution of intrinsic visual noise (dark light, Eigengrau) to age-related elevations in threshold under photopic conditions. Data were obtained from 48 observers (20-88 years) using a temporal 2AFC procedure. The stimulus was centered at 8° nasal retinal eccentricity and consisted of a 560 nm, 14.4' test flash (10 ms) concentric with a steady 500 nm (12.9°) adapting field (13 intensity levels ranging from 0-9 log quanta · sec(-1) · deg(-2)), which resulted in clear scotopic and photopic branches. Photopic thresholds increased linearly with age at a rate of 0.08 log unit per decade at the cornea. The mean slope of the rising portion of the tvi functions (in log-log coordinates) was 0.62, and not correlated with age. Dark light values increased with age, but not significantly. Dark light was a statistically significant predictor of individual differences in absolute photopic threshold, but it is not responsible for age-related increases in threshold under photopic conditions.