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. Data were collected from February 12, 2011, through December 21, 2012, and analyzed from November 1, 2017, through July 7, 2018. Main Outcomes and Measures: Uncorrected refractive error was defined as the presenting distance visual acuity in the better-seeing eye improved by at least 5 letters on the Early Treatment Diabetic Retinopathy Study chart (≥1 line on the logMAR chart) using the best-achieved optical correction. Multivariate logistic regressions were used to determine the factors associated with URE. Results: The study population of 707 adults 78 years or older (64.8% women; mean [SD] age, 84.3 [4.4] years) had a prevalence of URE of 38.8% (95% CI, 35.2%-42.5%). Prevalence was high for participants with eye disease (range, 35.0% [95% CI, 28.4%-42.0%] to 44.1% [95% CI, 27.2%-62.1%], depending on the disease) and those without eye disease (30.1%; 95% CI, 24.0%-36.7%). Prevalence was higher in participants who were examined at home (because they could not come to the clinic) than in those examined at the clinic (49.4% [95% CI, 42.8%-55.9%] vs 33.5% [95% CI, 29.2%-37.9%]; P < .001). Having an eye examination performed at home (odds ratio [OR], 1.64; 95% CI, 1.13-2.37), living alone (OR, 0.65; 95% CI, 0.47-0.90), and having the perceptions that the ophthalmologist consultation fees are too expensive (OR, 1.94; 95% CI, 1.12-3.36) and that declining visual acuity is normal with aging (OR, 1.47; 95% CI, 1.04-2.08) were all associated with URE. Conclusions and Relevance: These study results show that the prevalence of URE was high in this population and suggest that preventive strategies aimed at enhancing optical correction could be directed to all older adults and to specific groups by implementing at-home eye examinations for those who have difficulties attending an outpatient clinic and by focusing on those with eye disease who probably already have a regular ophthalmologic follow-up. More studies are needed to evaluate prevalence of URE in different populations and countries with various eye care systems.

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

AIM: Oculocutaneous albinism type 1 (OCA1) is due to TYR mutations. c.1205G>A/p.Arg402Gln (R402Q) is a thermosensitive variant of the TYR gene that has been reported to be responsible for mild forms of OCA1. The aim of our study was to define the phenotype associated with this variant. METHODS: In our retrospective series, among 268 patients diagnosed with OCA1, 122 (45.5%) harboured one pathogenic variant of TYR, and the R402Q variant ensured to be in trans by segregation analysis in 69 patients (25.7%), constituting the 'R402Q-OCA1' group. 146 patients harboured two pathogenic variants of the TYR gene other than R402Q. Clinical records were available for 119 of them, constituting the 'Classical-OCA1' group. RESULTS: Most R402Q-OCA1 patients presented with white or yellow-white hair at birth (71.43%), blond hair later (46.97%), a light phototype but with residual pigmentation (69.64%), and blue eyes (76.56%). Their pigmentation was significantly higher than in the classical-OCA1 group. All patients from the R402Q-OCA1 group presented with ocular features of albinism. However the prevalence of photophobia (78.13%) and iris transillumination (83.87%) and the severity scores of iris transillumination, retinal hypopigmentation and foveal hypoplasia were lower in the R402Q-OCA1 group. Visual acuity was higher in the R402Q-OCA1 group (0.38±0.21 logarithm of the minimum angle of resolution vs 0.76±0.24). Investigations concerning a possible additive effect of the c.575C>A/p.Ser192 (S192Y) variant of TYR in cis with R402Q, suggested by others, showed no significant impact on the phenotype. CONCLUSION: The R402Q variant leads to variable but generally mild forms of albinism whose less typical presentation may lead to underdiagnosis.

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. A molecular diagnosis was obtained in 72.32% of patients. A total of 243 new pathogenic variants were identified. Intragenic rearrangements represented 10.8% of all pathogenic alleles. NGS panel analysis allowed establishing a diagnosis for the rarest forms of the disease, which could not be diagnosed otherwise. Because of the clinical overlap between the different forms of the disease, diagnosis nowadays clearly relies on molecular grounds.

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. Design, Setting, and Participants: Cross-sectional analysis of the Three-City/Antioxydants, Lipides Essentiels, Nutrition et Maladies Oculaires (Alienor) Study cohort (April 2009 to December 2010). The dates of analysis were July 2017 to August 2018. The setting was a population-based study in France. The brain volume analysis included 104 participants, and the diffusion tensor imaging analysis included 79 participants. Main Outcomes and Measures: Global RNFL was assessed by spectral-domain optical coherence tomography. Brain volumes were assessed via T1-weighted magnetic resonance imaging by measurement of the global white and gray matter fractions and the hippocampal fraction. Brain microstructural alterations were assessed with diffusion tensor imaging at the level of the posterior thalamic radiations, the limbic system tracts (the fornix and cingulum bundles), and the posterior limb of the internal capsule (control region). Linear regression models adjusted for several confounders were performed. Results: Among a total of 104 participants, the mean (SD) age was 80.8 (3.9) years, and the cohort was 56.7% women (n = 59). The mean (SD) global RNFL thickness was 89.3 (12.9) µm. A thicker RNFL was associated with a greater hippocampal fraction (quantity of increase ß = 0.013; 95% CI, 0.001-0.025 per 10-µm increase in the RNFL thickness) and better diffusion tensor imaging variables in the global cingulum (mean diffusivity ß = -0.007; 95% CI, -0.015 to -0.000) and the hippocampal part of the cingulum (mean diffusivity ß = -0.009; 95% CI, -0.016 to -0.002 and radial diffusivity ß = -0.010; 95% CI, -0.018 to -0.002) and the posterior thalamic radiations (fractional anisotropy ß = 0.008; 95% CI, 0.000-0.017). No significant associations were found with other magnetic resonance imaging volumes or with other diffusion tensor imaging variables. In particular, there was no significant association with the control region of interest. Conclusions and Relevance: Results of this study suggest that in elderly individuals without dementia, a thicker RNFL was associated with better magnetic resonance imaging variables both in a region that included the visual pathways and in regions particularly involved in the neurodegenerative processes of Alzheimer disease.