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TOPIC: To estimate the prevalence of nonrefractive visual impairment and blindness in European persons 55 years of age and older. CLINICAL RELEVANCE: Few visual impairment and blindness prevalence estimates are available for the European population. In addition, many of the data collected in European population-based studies currently are unpublished and have not been included in previous estimates. METHODS: Fourteen European population-based studies participating in the European Eye Epidemiology Consortium (n = 70 723) were included. Each study provided nonrefractive visual impairment and blindness prevalence estimates stratified by age (10-year strata) and gender. Nonrefractive visual impairment and blindness were defined as best-corrected visual acuity worse than 20/60 and 20/400 in the better eye, respectively. Using random effects meta-analysis, prevalence rates were estimated according to age, gender, geographical area, and period (1991-2006 and 2007-2012). Because no data were available for Central and Eastern Europe, population projections for numbers of affected people were estimated using Eurostat population estimates for European high-income countries in 2000 and 2010. RESULTS: The age-standardized prevalence of nonrefractive visual impairment in people 55 years of age or older decreased from 2.22% (95% confidence interval [CI], 1.34-3.10) from 1991 through 2006 to 0.92% (95% CI, 0.42-1.42) from 2007 through 2012. It strongly increased with age in both periods (up to 15.69% and 4.39% in participants 85 years of age or older from 1991 through 2006 and from 2007 through 2012, respectively). Age-standardized prevalence of visual impairment tended to be higher in women than men from 1991 through 2006 (2.67% vs. 1.88%), but not from 2007 through 2012 (0.87% vs. 0.88%). No differences were observed between northern, western, and southern regions of Europe. The projected numbers of affected older inhabitants in European high-income countries decreased from 2.5 million affected individuals in 2000 to 1.2 million in 2010. Of those, 584 000 were blind in 2000, in comparison with 170 000 who were blind in 2010. CONCLUSIONS: Despite the increase in the European older population, our study indicated that the number of visually impaired people has decreased in European high-income countries in the last 20 years. This may be the result of major improvements in eye care and prevention, the decreasing prevalence of eye diseases, or both.

Purpose Genetic and epidemiologic studies have shown that lipid genes and high-density lipoproteins (HDLs) are implicated in age-related macular degeneration (AMD). We studied circulating lipid levels in relationship to AMD in a large European dataset. Design Pooled analysis of cross-sectional data. Participants Individuals (N = 30 953) aged 50 years or older participating in the European Eye Epidemiology (E3) consortium and 1530 individuals from the Rotterdam Study with lipid subfraction data. Methods AMD features were graded on fundus photographs using the Rotterdam classification. Routine blood lipid measurements, genetics, medication, and potential confounders were extracted from the E3 database. In a subgroup of the Rotterdam Study, lipid subfractions were identified by the Nightingale biomarker platform. Random-intercepts mixed-effects models incorporating confounders and study site as a random effect were used to estimate associations. Main Outcome Measures AMD features and stage; lipid measurements. Results HDL was associated with an increased risk of AMD (odds ratio [OR], 1.21 per 1-mmol/l increase; 95% confidence interval [CI], 1.14–1.29), whereas triglycerides were associated with a decreased risk (OR, 0.94 per 1-mmol/l increase; 95% CI, 0.91–0.97). Both were associated with drusen size. Higher HDL raised the odds of larger drusen, whereas higher triglycerides decreases the odds. LDL cholesterol reached statistical significance only in the association with early AMD (P = 0.045). Regarding lipid subfractions, the concentration of extra-large HDL particles showed the most prominent association with AMD (OR, 1.24; 95% CI, 1.10–1.40). The cholesteryl ester transfer protein risk variant (rs17231506) for AMD was in line with increased HDL levels (P = 7.7 × 10–7), but lipase C risk variants (rs2043085, rs2070895) were associated in an opposite way (P = 1.0 × 10–6 and P = 1.6 × 10–4). Conclusions Our study suggested that HDL cholesterol is associated with increased risk of AMD and that triglycerides are negatively associated. Both show the strongest association with early AMD and drusen. Extra-large HDL subfractions seem to be drivers in the relationship with AMD, and variants in lipid genes play a more ambiguous role in this association. Whether systemic lipids directly influence AMD or represent lipid metabolism in the retina remains to be answered.

The authors describe a case of combined full-thickness retinal and pigment epithelium macular hole that spontaneously developed in the right eye of an 86-year-old woman with age-related macular degeneration (AMD). One year prior, the patient had been diagnosed with drusenoid pigment epithelium detachment (PED) in the right eye and geographic atrophy in the left eye. Full-thickness macular hole associated with PED and spontaneous rip of the retinal pigment epithelium (RPE) associated with macular hole have been previously reported in eyes with exudative AMD. However, the authors are unaware of any report of spontaneous full-thickness retinal and pigment epithelium hole at the macula in AMD. The pathogenic mechanisms of this unusual macular hole, which involves the full retinal thickness and RPE, may include stretching forces at the vitreomacular interface and pushing from within the PED.

Purpose: To describe subclinical vitelliform macular dystrophy (VMD). Methods: Eight asymptomatic relatives of VMD patients with BEST1 mutations were functionally, morphologically, and genetically evaluated. Results: All subjects showed 20/20 visual acuity and absence of funduscopic lesions. In 2 subjects we did not find any mutation in BEST1. In 3 subjects (6 eyes) with BEST1 mutations (2 families: p.G15D; p.A243V), spectral domain OCT showed normal findings. In 3 subjects (6 eyes) with BEST1 mutations (3 families: p.V9A; p.R92C; p.I230T), we found, on spectral domain OCT, a thicker and more reflective appearance of the layer between the retinal pigment epithelium and the inner segment/outer segment interface. Changes on OCT were present in the absence of EOG abnormalities, and vice versa. Conclusion: Subclinical VMD in subjects with BEST1 mutations may be extremely variable.

Purpose:Exudative AMD is phenotypically heterogeneous, including different subtypes of choroidal neovascularisation (CNV), defined by angiographic criteria, such as classic CNV, predominantly classic CNV, occult CNV, minimally classic CNV, polypoidal choroidal vasculopathy, or retinal angiomatosis proliferation. Our purpose was to establish a large DNA bank of patients affected with exudative AMD, with phenotype based on fluorescein angiography. Methods:A total of 1229 patients were recruited in four retinal departments in France in 20 months (Centre Hospitalier Intercommunal at Créteil, Centre d'Imagerie et de Laser at Paris, hospital Quinze-Vingts at Paris, CHU Pellegrin at Bordeaux). Mean age was 79,5 y.o and sex-ratio was 0.33. For each patient were recorded a questionnaire, demographic data, serum, DNA, fundus pictures and fluorescein angiography. We first analyzed the main polymorphisms involved in AMD (CFH and LOC387715 genes). Results:Here is the repartition of our population for both CFH and Loc387715 polymorphisms. Conclusions:The specificity of our large population constituting our DNA bank is a phenotype classification based on fluorescein angiography. Our strategy allows phenotype-genotype correlations on exudative AMD. Our perspective are to analyze interactions with other polymorphisms (ApoE, C3, CX3CR1, ..) and with environmental factors. On the other had, we are looking for new polymorphisms involved in AMD in individuals wtwt for both CFH and LOC387715 polymorphisms. Recruitment of healthy controls is on process.

Purpose:Major genetic factors for age-related macular degeneration (AMD) have recently been identified. Our purpose was to analyze the angiographic features of patients homozygous for at-risk genotypes at HTRA1 and CFH genes, in a French exudative AMD population.Patients and Methods:200 patients affected with exudative AMD were genotyped for the polymorphisms rs11200638 of HTRA1 and Y402H of CFH genes. Based on the genotype, 4 homozygous groups were extracted from the entire cohort: double homozygous for wild alleles of both HTRA1 and CFH genes (group 1), homozygous for the at-risk allele of the HTRA1 gene only (group 2), homozygous for at-risk allele of CFH gene only (group 3), and double homozygous carriers for both at-risk alleles (group 4). Based on fluorescein angiography, infracyanin green angiography and optical coherence tomography. exsudative AMD was graded as classic CNV, predominantly classic CNV, occult CNV, minimally classic CNV, retinal angiomatosis proliferation or polypoidal choroidal vasculopathy. Results:Group 1 (n=9; mean age=72.8) presented 44.4% classic and predominantly classic CNV, 33.3% occult CNV and 11.1% minimally classic CNV. Group 2 (n=12; mean age=71.7) presented 50.0% classic and predominantly classic CNV, 33.3% occult CNV and no minimally classic CNV. Group 3 (n=30; mean age=71.1) presented 10% classic and predominantly classic CNV, 63.3% occult CNV and 13.3% of minimally classic CNV. Group 4 (n=17; mean age= 69.2) presented 29.4 % of classic and predominantly classic CNV, 52.9% of occult CNV and 11.8% of minimally classic CNV. Comparison between group 2 versus group 3 demonstrated that occult CNV and MC CNV were more frequently observed in group 3 than in group 2 (p

Purpose:Extensive Macular Atrophy with Pseudo-drusen like appearance (EMAP) is a newly described clinical entity. The etiology in EMAP is still unknown. We aimed to describe the characteristics of choroidal thickness in EMAP affected eyes. Methods:A total of 20 eyes of 10 patients with EMAP underwent spectral domain optical coherent tomography (SD-OCT) examination (Spectralis, Heidelberg, Germany). We retrospectively analyzed the images measuring central foveal choroidal thickness (CFCT) and compared them to 20 healthy eyes of an age and gender matched population (controls). Results:Mean CFCT was 124.55 microns (SD 48.7) in EMAP eyes versus 316.75 microns (SD 50.25) in healthy eyes (p

Purpose:To determine the phenotypic variability in vitelliform macular dystrophy (VMD) patients with VMD2 mutations. Methods:VMD patients with VMD2 mutations, were evaluated prospectively regarding age, age at onset, best-corrected visual acuity (BCVA), fundus autofluorescence (FAF), fluorescein angiography (FA), optical coherence tomography (OCT), electro-oculography (EOG). Results:Forty-two eyes of 21 patients (9 male, 12 female) were included in the study. We identified 8 different VMD2 mutations (8 heterozygous [1 novel], and 1 homozygous), in 9 unrelated families. Patients presented with various stages of the disease, form absence of clinically detectable lesions / previtelliform lesions to end-stage lesions (ie, patient FG04 [exon 7 Ala243Val] / patient CT02 [exon 7 Ile264The], and patient CT01 [exon 4 Arg92Cys] or patient CT09 [exon 2 arg25trp], respectively). Mean age was 26.43±20.66 years. Age at onset varied between 2 and 67 years (median= 17). BCVA ranged between 20/20 and 20/200 (median, 20/40). Even with the same mutation, the age at onset and the disease progression (stage of the disease, and visual function) was highly variable interfamilially and intrafamilially. In VMD and multifocal VMD patients with VMD2 mutations, early stage lesions had accumulation of yellowish material within the macula, and within and/or outside the macular area, respectively. This material was highly autofluorescent and appeared as hyper-reflective dome-shaped lesion located between the hypo-reflective outer nuclear layer and the hyper-reflective retinal pigment epithelium (RPE) layer. Later stages were characterized by partial/complete resorption of the yellowish material, which was replaced by a fluid component showing no increased fluorescence on FAF and reflectivity on OCT examination. Late lesions were characterized by partial/complete atrophy or fibrosis within the area previously occupied by the yellowish material. FA showed both masking effects, due to accumulation of material, and transmission defects due to resorption of material, with a suggestion of late leakage. The electro-oculogram showed an abnormal light peak to dark trough ratio in all affected eyes. Mean BCVA impairment showed a statistically significant correlation to an advanced stage of the disease (P < .001). Conclusions:The type of VMD2 mutations were not correlated with the severity of the phenotype in the VMD patients determined.

Purpose Age-related macular degeneration (AMD) is a multifactorial disease involving genetic and environmental factors. Most of the genetic factors identified so far involve the nuclear genome. Recently, two studies in North America and Australia reported an association between advanced AMD and the mitochondrial T2 haplogroup. Our purpose was to assess this association in a large French population. Methods This case control study included 1,224 patients with neovascular AMD and 559 controls with normal fundus. Mitochondrial DNA polymorphisms at and around nucleotides 4917, 11,812, and 14,233 were determined using PCR amplification and direct sequencing of mitochondrial DNA. Results No association was found between the mitochondrial T2 haplogroup and neovascular AMD in the French population: 94/1,152 patients with neovascular AMD had the T2 haplogroup (8.2%) versus 34/482 controls (7.1%; odds ratio=0.9 [0.5–1.5], p=0.66). Conclusions An association between AMD and the T2 haplogroup, previously described in North American and Australian populations, was not confirmed in a large French population.

Purpose: We observed hyperreflective dome-shaped or pyramidal structures (HPS) on spectral domain optical coherence tomography (SD-OCT) in patients affected with geographic atrophy (GA). Our purpose was to describe the multimodal imaging features of HPS identified in areas of GA in patients with age-related macular degeneration. Methods: This is a retrospective case series of patients with GA harboring HPS in atrophic areas. Multimodal imaging examination including infrared reflectance, fundus autofluorescence, and SD-OCT, was performed for each patient. Infrared and fundus autofluorescence appearance and mean SD-OCT height of HPS in GA were analyzed. Results: A total of 36 eyes of 25 patients (20 women; mean age, 82.3 +/- 5.9 years, range, 73-92 years) with GA were included. A total of 96 HPS in GA were analyzed by SD-OCT. In all HPS (96/96, 100%), the peripheral part was hyperreflective. In 66 of 96 HPS (69%), the center was heterogeneously hyperreflective, whereas in 30 of 96 HPS (31%), the center was hyporeflective. On infrared reflectance images, HPS in GA appeared as hyporeflective lesions surrounded by hyperreflective halos, within an area of background hyperreflectivity because of GA in all eyes. On fundus autofluorescence, 39 of 96 HPS (41%) were heterogeneously hyperautofluorescent, whereas 57 of 96 HPS (59%) were hypoautofluorescent. Mean height of HPS was 91 +/- 50.9 mu m in the foveal scan (range, 42-291 mu m). Conclusion: We describe a multimodal imaging of distinctive lesions that presented as hyperreflective pyramidal structures on SD-OCT. We suggest the name "ghost drusen" because these HPS appear in GA areas, and because of their pyramidal or dome-shaped aspect on SD-OCT.

PURPOSE: To analyze the outer retinal and retinal pigment epithelium (RPE) features of reticular pattern dystrophy of the retina using spectral-domain optical coherence tomography (SDOCT). DESIGN: Retrospective observational case series. METHODS: Consecutive patients with reticular pattern dystrophy of the retina underwent a complete ophthalmologic examination, including assessment of best-corrected visual acuity (BCVA), fundus biomicroscopy, fluorescein angiography (FA), and SDOCT. RESULTS: Twenty-two eyes of 13 patients (6 men, 7 women, mean age 68.6 +/- 14.5 years) were included. In the foveal area, the RPE layer appeared normal in 45.5% of eyes, while small RPE elevations and RPE bumps were detected in 31.8% and 22.7% of eyes, respectively. The SDOCT scans showed disruption of inner segment/outer segment (IS/OS) junction in 54.6% of eyes, a slight elevation in 59.1% of eyes, and an absence in 45.5% of eyes. The outer limiting membrane (OLM) appeared disrupted in 50.0% of eyes: absent in 22.7% of eyes, and elevated in 63.6% of eyes. Hyper-reflective subretinal material accumulation or hyporeflective subretinal lesions in the retrofoveolar region were detected in 70% and in 20% of eyes, respectively. SDOCT showed hyporeflective retinal pseudocysts in 13.6% of eyes. CONCLUSION: In this study on reticular pattern dystrophy of the retina, SDOCT provided a description of the material deposits and the alterations of the RPE and the different retinal layers. We observe that the lesions present specific features distinct from other macular dystrophies, but closer to those reported in fundus flavimaculatus than those reported in adult-onset foveomacular vitelliform dystrophy. Further analyses are needed, particularly to analyze the progression of the lesions. ((C) 2013 by Elsevier Inc. All rights reserved.)