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Purpose: To investigate ocular and systemic factors associated with the retinal arterial wall‐to‐lumen ratio (WLR) and to determine the relative contribution of genetic and environmental variation to WLR in healthy adults. Methods: This cross‐sectional twin study included 78 monozygotic and 67 dizygotic same‐sex twin pairs aged 58.4 ± 9.8 (mean ± SD) years. Lumen diameter (LD) and outer diameter (OD) of a superotemporal retinal artery were measured using adaptive optics fundus photography, and the WLR was calculated. Linear mixed model regression analysis of associations with WLR comprised the descriptive variables ocular axial length (AL), intraocular pressure (IOP), height, weight, body mass index (BMI), smoking, blood pressure, high density (HDL), low density (LDL) and very low density (VLDL) lipoproteins, total cholesterol and triglycerides. The relative influence of genes and environment on WLR was calculated through polygenetic modelling. Results: Increasing age and arterial blood pressure were associated with a higher WLR, while increasing retinal artery OD and ocular AL were associated with a lower WLR. Sex, smoking status, BMI, IOP, cholesterol levels or triglycerides had no detectable impact on the WLR. Broad‐sense heritability of WLR was 21% (95% CI: 1–41%), while environmental factors accounted for the remaining 79% of the interindividual variance (95% CI: 59–99%). Conclusion: Retinal artery wall thickness was closely linked to increasing age and higher arterial blood pressure, the latter being mediated by the environment over genes. [ABSTRACT FROM AUTHOR]

Purpose The purpose of the study was to evaluate vision‐related quality of life and visual ability in patients with OPA1 autosomal dominant optic atrophy (ADOA). Methods: This cross‐sectional, observational study included 145 participants with a mutation in the OPA1 gene associated with ADOA, 63 mutation‐free first‐degree relatives and 92 healthy subjects unrelated to the families. Participants underwent a clinical eye examination, and adult participants completed the National Eye Institute Visual Function Questionnaire (NEI‐VFQ‐39), while children completed the Cardiff Visual Ability Questionnaire for Children (CVAQC). Results: In adults with ADOA, both mean visual acuity (VA) and mean contrast sensitivity (CS) were significantly inferior to both first‐degree relatives and unrelated controls (p < 0.001). In children with ADOA, mean VA was significantly lower compared with first‐degree relatives (p = 0.0052), whereas CS was not (0.127). Adults with ADOA scored lower than both comparator groups on composite score (p < 0.001), general health subscale (p = 0.0075) and all vision‐related subscales (p < 0.001) except the ocular pain subscale (p = 0.2). In children with ADOA, the median CVAQC logit score was significantly lower compared with first‐degree relatives (p = 0.037). The science lessons subscale was significantly lower for children with ADOA compared with first‐degree relatives (p = 0.046), as well as the language lessons subscale (p = 0.038). For adults, composite score and subscale scores were significantly associated with both VA, CS and fixation status. Conclusion: OPA1 mutation is associated with lower quality of life and visual ability in patients with ADOA compared with both first‐degree relatives and unrelated controls. VA, CS and fixation status affect quality of life in patients with ADOA. [ABSTRACT FROM AUTHOR]

A choroideremia carrier with blurred vision in her left eye was found to have a large unilateral vitelliform lesion in the fovea. Carrier retinopathy rarely involves the center of the fovea, but this case shows that it may happen. Purpose: To describe a unilateral foveal vitelliform lesion associated with subnormal visual acuity in a choroideremia carrier. Methods: A retrospective case report, assessment of the best-corrected visual acuity, fundus photography, wide-angle scanning laser ophthalmoscopy, optical coherence tomography, and microperimetry. Results: A 37-year-old woman with a pathogenic 907C>T mutation in the choroideremia gene encoding Rab escort protein-1 presented with blurred vision in her left eye. The Snellen best-corrected visual acuity was 20/20 in the right eye and 20/32 in the left eye, a unilateral decrease because it was 20/20 in both eyes at the most recent examination nine years earlier. In the left eye, a large vitelliform lesion with a diameter of 1,300 µ m had developed in the fovea, whereas in the right eye, a smaller similar lesion was seen close to the fovea. Both eyes showed classical radial patterns of multiple bright fundus patches with associated autofluorescence defects and focal drusenoid lesions of the outer retina. Conclusion: With its large size and foveal location the vitelliform lesion in this patient's left eye is an unusual manifestation in an otherwise common Rab escort protein-1 mutation carrier state, and its unilaterality fits the assumption of random X-chromosome inactivation. [ABSTRACT FROM AUTHOR]

Purpose: To examine cone density in relation to gestational and morphological parameters in the Copenhagen Child Cohort (CCC2000). Methods: The macula was imaged using adaptive optics in 1,296 adolescents aged 16–17 years. Axial length and distance visual acuity were determined. Absolute and angular cone photoreceptor density were analysed for an 80 × 80‐pixel area, 2 degrees temporal to the fovea. Association with axial length was analysed with linear regression. Correlation with visual acuity was described with a Pearson correlation coefficient. Associations of cone density with gestational parameters, maternal smoking, sex and age were analysed using multiple regression adjusted for axial length. Results: Mean absolute cone density was 30,007 cones/mm2 (SD ± 3,802) and mean angular cone density was 2,383 cones/deg2 (SD ± 231). Peri‐ and postnatal parameters, sex and age had no statistically significant effect on cone density (p > 0.05). Absolute cone density decreased with longer axial length (−2,855 cones/mm2 per mm or −9.7% per mm, p < 0.0001). For angular density, which included a correction for the geometrical enlargement of the eye with axial length, a decrease with axial length was detectable, but it was small (−20 cones/deg2 per mm or −0.84% per mm, p = 0.009). Conclusions: The decrease in cone density per unit solid angle with increasing axial length was small, less than 1 percent per mm, indicating that expansion of the posterior pole during the development of refraction takes place without a clinically significant loss of cones. Perinatal parameters, within the spectrum presented by the study population, had no detectable effect on cone density. [ABSTRACT FROM AUTHOR]

Asteroid hyalosis is defined by the presence of white, snowball‐like non‐crystalline vitreous opacities that move with the vitreous and appear to be anchored to its matrix. Asteroid hyalosis commonly occurs in the absence of other identifiable ocular abnormalities and is usually an incidental finding. The vitreous opacities are usually invisible to the patient and asymptomatic, but asteroid hyalosis can be a significant obstacle to the examination of the fundus. The prevalence increases dramatically with age. The aetiology is unknown. We systematically reviewed the literature for epidemiological data, qualitatively reviewed available studies, conducted meta‐analyses with demographical stratifications, evaluated temporal changes and estimated the future prevalence using forecasting analysis. Nine eligible studies were identified with data on 104 569 individuals. The overall population prevalence of asteroid hyalosis was 0.75% (95% confidence interval: 0.39–1.21%); however, the prevalence was highly age‐dependent, ranging from 0.27% (95% confidence interval 0.12–0.49%) in individuals aged 0–39 years and gradually increasing to 3.07% (95% confidence interval 1.90–4.50%) in individuals aged ≥80 years. Male gender was an additional risk factor (odds ratio 1.80, 95% confidence interval 1.32–2.45, p = 0.00017). The estimated global prevalence was 10.7 million subjects in year 1950, which is expected to increase to 41.5 million in year 2020 and 91.2 million in year 2100. The prevalence of asteroid hyalosis is relevant because it impacts the utility of diagnostic strategies, especially screening methods for conditions such as diabetic retinopathy. [ABSTRACT FROM AUTHOR]