Association of Retinal Nerve Fiber Layer Thickness With Brain Alterations in the Visual and Limbic Networks in Elderly Adults Without Dementia.

Importance: The eye is a sensory organ that is easily accessible for imaging techniques, allowing the measurement of the retinal nerve fiber layer (RNFL) thickness. The eye is part of the central nervous system, and its neurons may be susceptible to degeneration; therefore, changes in the RNFL thickness may reflect microstructural and volume alterations in the brain.

Objective: To explore the association between the peripapillary RNFL thickness and brain alterations in the visual and limbic networks in elderly people without dementia.

Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the gene.

Aim: Oculocutaneous albinism type 1 (OCA1) is due to mutations. c.1205G>A/p.

Prevalence and Associated Factors of Uncorrected Refractive Error in Older Adults in a Population-Based Study in France.

Importance: Uncorrected refractive error (URE) is a common cause of visual impairment, but its prevalence in groups of older adults who could be pragmatic targets for improving optical correction remains unknown.

Objectives: To estimate the prevalence of URE in older adults, particularly in those with age-related eye disease and those who are unable to attend an outpatient clinic, and to identify the factors associated with URE.

Design, Setting, And Participants: This population-based cross-sectional analysis included 707 adults 78 years or older from the Alienor Study in Bordeaux, France.

Molecular characterization of a series of 990 index patients with albinism.

Albinism is a clinically and genetically heterogeneous disease characterized by variable degrees of hypopigmentation and by nystagmus, foveal hypoplasia, and chiasmatic misrouting of the optic nerves. The wide phenotypic heterogeneity impedes the establishment of phenotype-genotype correlations. To obtain a precise diagnosis, we screened the 19 known albinism genes in 990 index patients using targeted next-generation sequencing (NGS) and high-resolution comparative genomic hybridization.