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.

Purpose: To describe the phenotype and genotype of a 10-year-old boy affected with enhanced S-cone syndrome associated with neovascularization. Methods: Fundus autofluorescence, fluorescein angiography, indocyanine green angiography, spectral domain optical coherence tomography, full-field electroretinogram and NR2E3 molecular testing were performed. Results: Best-corrected visual acuity was measured as 20/32, right eye and 20/20, left eye. Fluorescein and indocyanine green angiographies showed unilateral macular retinochoroidal anastomosis on his right eye, and spectral domain optical coherence tomography showed typical signs of subretinal exudation and foveolar pseudoschisis consistent with the diagnosis of enhanced S-cone syndrome. Genetic analysis revealed biparental transmission of mutations in the enhanced S-cone syndrome-causing gene, NR2E3, namely, c.194_202del (p.Asn65_Cys67del), and c.932 G>A (p.Arg311Gln), supporting an autosomal recessive inheritance. The patient received three intravitreal injections of anti-VEGF agents. Conclusion: Evidence of retinochoroidal anastomosis in an individual affected with enhanced S-cone syndrome supports the view that neovascularization can occur early in the course of the disease, and raises the question to know whether it might be responsible for previously described enhanced S-cone syndrome-associated hemorrhage-induced fibrosis.

To estimate the prevalence of nonrefractive visual impairment and blindness in European persons 55 years of age and older.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 In addition, many of the data collected in European population-based studies currently are unpublished and have not been included in previous estimates.Fourteen European population-based studies participating in the European Eye Epidemiology Consortium (n =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.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.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.

Epidemiology of age-related macular degeneration. The epidemiological studies conducted in the last 30 years have allowed the estimation of the prevalence of age-related macular degeneration (AMD) on the different continents, and the identification of its main risk factors. Thus, the prevalence of AMD increases strongly with age and is more frequent in populations of European ancestry than in those of African ancestry, with an intermediate situation in Asians and Hispanics. More than 50 genetic polymorphisms have been identified as associated with AMD, including 2 major associations with the complement factor H (CFH) and ARMS2 genes. Smoking is a major risk factor, with a 5-fold increased risk in heavy smokers. Finally, the role of nutrition (in particular intakes of antioxidants, lutein and zeaxanthin and omega 3 fatty acids) appears important. The major role played by modifiable factors (in particular smoking and nutrition) opens the way to preventive strategies.

L’administration intravitréenne d’agents anti-VEGF, disponibles en France depuis 2007, permet de stabiliser et d’améliorer l’acuité visuelle dans la DMLA exsudative. Depuis plusieurs années, la prise en charge de cette pathologie a évolué, tant au niveau des méthodes de diagnostic que des schémas de traitement qui se sont adaptés à la physiopathologie de la DMLA. L’objectif de cette enquête, réalisée auprès d’un échantillon représentatif d’ophtalmologistes français, était de décrire l’évolution des pratiques médicales un an après une enquête similaire (Massé et al., J Fr Ophtalmol 2016 ; 39 : 40–47). L’enquête a été réalisée de décembre 2014 à mars 2015 auprès de 191 ophtalmologistes (53 ophtalmologistes généralistes et 98 ophtalmologistes spécialistes de la rétine) via un questionnaire en ligne. Celui-ci a été élaboré par un comité d’ophtalmologistes afin de décrire les pratiques en matière de dépistage, de diagnostic, de traitement et de suivi de la DMLA exsudative. La première injection intravitréenne (IVT) d’anti-VEGF était réalisée habituellement dans les 10 jours après le diagnostic d’une DMLA exsudative par 98 % des ophtalmologistes et par 63 % dans les 5 jours. Les protocoles de traitement considérés comme idéaux par les rétinologues étaient le pro re nata (PRN) pour 58 %, l’Observe and Plan pour 25 % et le Treat and Extend pour 17 %. Des IVT bilatérales étaient réalisées le même jour par 46 % des rétinologues, surtout par commodité pour le patient et en raison du risque infectieux faible. Le protocole initial était maintenu par un tiers des rétinologues tout au long du traitement, alors que les deux tiers déclaraient le réévaluer après 5 mois en moyenne. Cette enquête met en évidence une amélioration des délais de prise en charge par rapport à l’enquête précédente et une évolution de l’organisation des ophtalmologistes et des schémas thérapeutiques vers des protocoles individualisés. Intravitreal administration of anti-VEGF agents, available in France since 2007, allows stabilization and improvement in visual acuity in wet age-related macular degeneration (AMD). In the past few years, the management of this disease has evolved in terms of both diagnostic methods and treatment schedules, which have been adapted to the pathophysiology of AMD. The goal of this survey, performed in a representative sample of French ophthalmologists, was to describe the evolution of medical practices one year after a similar survey (Massé et al., J Fr Ophtalmol 2016; 39: 40–7). The survey was performed from December, 2014 to March, 2015 in 191 ophthalmologists (53 general ophthalmologists and 98 retina specialists) with an on-line questionnaire. This questionnaire was designed by a committee of ophthalmologists to describe practices concerning screening, diagnosis, treatment and follow-up of wet AMD. An initial intravitreal injection of an anti-VEGF agent was usually performed within 10 days after the diagnosis of wet AMD by 98% of ophthalmologists and within 5 days by 63%. The treatment protocols favored by retina specialists were pro re nata (PRN) for 58%, Observe and Plan for 25% and Treat and Extend for 17%. Bilateral intravitreal injections were performed on the same day by 46% of retina specialists, mostly for the convenience of the patient and because of the low infectious risk. The initial protocol was maintained by one third of retina specialists throughout the course of treatment, while two thirds of them reported that they reassessed the protocol on average after 5 months. This survey on the practices of the ophthalmologists in wet AMD highlights an improvement in the time course of patient management and an evolution of treatment schedules toward individualized protocols.

Purpose and context. - Intravitreal administration of anti-VEGF agents, available in France since 2007, allows stabilization and improvement in visual acuity in wet age-related macular degeneration (AMD). In the past few years, the management of this disease has evolved in terms of both diagnostic methods and treatment schedules, which have been adapted to the pathophysiology of AMD. The goal of this survey, performed in a representative sample of French ophthalmologists, was to describe the evolution of medical practices one year after a similar survey (Masse et al., J Fr Ophtalmol 2016; 39: 40-7). Method. - The survey was performed from December, 2014 to March, 2015 in 191 ophthalmologists (53 general ophthalmologists and 98 retina specialists) with an on-line questionnaire. This questionnaire was designed by a committee of ophthalmologists to describe practices concerning screening, diagnosis, treatment and follow-up of wet AMD. Results. - An initial intravitreal injection of an anti-VEGF agent was usually performed within 10 days after the diagnosis of wet AMD by 98% of ophthalmologists and within 5 days by 63%. The treatment protocols favored by retina specialists were pro re nata (PRN) for 58%, Observe and Plan for 25% and Treat and Extend for 17%. Bilateral intravitreal injections were performed on the same day by 46% of retina specialists, mostly for the convenience of the patient and because of the low infectious risk. The initial protocol was maintained by one third of retina specialists throughout the course of treatment, while two thirds of them reported that they reassessed the protocol on average after 5 months. Conclusion. - This survey on the practices of the ophthalmologists in wet AMD highlights an improvement in the time course of patient management and an evolution of treatment schedules toward individualized protocols. (C) 2017 Published by Elsevier Masson SAS.

Background and objectives. - Wet AMD is characterized by the formation of choroidal neovascularization, mediated by vascular endothelial growth factor (VEGF) and responsible for a decrease in visual acuity and metamorphopsia of sudden onset. Intravitreal anti-VEGF can stabilize or even improve visual acuity. Although there is a consensus among ophthalmologists about the induction phase injection of anti-VEGF, there appear to be differences in practice regarding therapeutic treatment modalities. The goat of this work was to explore this hypothesis and to better understand real life practices.Method. - The Ipsos institute conducted a qualitative survey of 16 retinal specialists and 9 general ophthalmologists in September and October 2013, using a questionnaire developed by a scientific committee of experts. Fifteen telephone interviews and 4 face-to-face meetings with a retina specialist and an ophthalmologist were conducted. This qualitative study allowed the development of a quantitative survey of 200 retina specialists and general ophthalmologists, conducted between November 2013 and January 2014, to describe practices in diagnosis, treatment and follow-up of wet AMD.Results. - A distribution of roles between the ophthalmologist making the initial diagnosis and the retinal specialists responsible for treatment and follow-up was noted. Treatment was initiated within 10 days of diagnosis as recommended by the HAS in only one third of patients. After the induction phase of treatment, i.e. three monthly injections of anti-VEGF, treatment and monitoring practices were heterogeneous with 74% of physicians using a PRN treatment protocol, 22% a bimonthly protocol (with monthly monitoring in 19.4% of cases) and 4% a "treat and extend" protocol. There was little change in the protocol chosen in the case of recurrence.Conclusion. - Three quarters of ophthalmologists report using a PRN protocol, and over 90% report seeing their patients monthly, either for injection or for a check-up. This apparent uniformity is in reality more complex: for the large majority, they prefer to closely follow the patient so as to treat the slightest recurrence, but with great variability in practices with regard to individualization of treatment. (C) 2015 Elsevier Masson SAS. All rights reserved.

PURPOSE:To describe unusual retinal findings of a patient affected by hemochromatosis.METHODS:Case report of a 49-year-old patient who presented a progressive loss of vision. Fundus photography, fluorescein angiography, full-field electroretinogram, autofluorescence imaging, and spectral domain optical coherence tomography were performed. The patient was known to be homozygous for the C282Y mutation in the HFE gene.RESULTS:Visual acuity was measured at 20/20 on his right eye and 20/25 on his left eye. Retinal imaging showed alterations of the retinal pigment epithelium clearly visible on fundus autofluorescence and fluorescein angiography. The spectral domain optical coherence tomography showed retinal pigmentary epithelial atrophy associated with irregularities and focal interruption of the ellipsoid zone. A thin retina was also observed in the foveolar region associated to a thickened choroid. Full-field electroretinogram showed a decrease of rods and cones responses.CONCLUSION:Here, the authors describe the retinal findings of a patient affected by hemochromatosis, characterized by unusual retinal pigment epithelium changes associated to altered visual function. The authors hypothesize that the retinopathy could be linked to hemochromatosis because of the pathophysiology of iron homeostasis and the toxicity of iron overload for the photoreceptors.

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 investigate the multimodal morphological features in the different stages of Best vitelliform macular dystrophy (VMD) in subjects harboring mutations in the BEST1 gene, and their changes during the progression of the disease.METHODS:In this retrospective observational study performed between January 2007 and December 2012, 21 patients (42 eyes) with Best VMD from eight families with the BEST1 mutation were included. Best-corrected visual acuity (BCVA), fundus autofluorescence (FAF), and spectral domain optical coherence tomography (SDOCT) were evaluated at study entry and at last visit.RESULTS:The mean age of patients was 26.3±17.4 years. Seven new missense mutations in BEST1 were identified. Mean follow-up was 41.1±18.5 months. Mean BCVA was 0.34±0.34 LogMAR at study entry and 0.32±0.33 LogMAR at last follow-up visit (p = 0.2). The overall lesion area on FAF increased from 6.62±4.9 mm² to 7.34±6.1 mm² (p = 0.05). At study entry, on SD-OCT, photoreceptor inner segment ellipsoid portion (ellipsoid zone, EZ) was normal in 15 eyes, disrupted in 14 eyes, and absent in 13 eyes. In two eyes, EZ changed from normal to disrupted during follow-up. Three eyes of three patients showing pseudohypopyon lesions at study entry progressed to vitelliruptive lesions at the last follow-up visit. Three eyes of three patients showing vitelliruptive lesion at study entry reverted to pseudohypopyon lesion with overall enlargement of the lesion size.CONCLUSIONS:Multimodal analysis allowed documenting a continuous material accumulation and reabsorption in Best VMD progression. Blue FAF and SD-OCT could represent noninvasive imaging techniques to monitor Best VMD.

Polypoidal choroidal vasculopathy (PCV) is an exudative maculopathy, with clinical features distinct from neovascular age-related macular degeneration. The EVEREST trial is the only published randomized controlled clinical trial in PCV. Ranibizumab has been proposed for the treatment of PCV and has become one of the standard of care in this particular pathology. To date, a lot of studies have been published, trying to analyze the early and late morphological and functional response to intravitreal ranibizumab, in different ethnic populations, as well as predictive factors of outcome. Imaging characteristics and their changing after treatment, including choroidal modifications have been also investigated. These literature data may help to answer the controversy whether PCV is a subtype of AMD or a specific entity.

The purpose of the CAP (Creteil AMD PHRC-funded) Study was to analyze risk factors of exudative age-related macular degeneration (AMD) in a large French case–control population.

Purpose: To analyze retrospectively the efficacy of intravitreal ranibizumab injections for the management of choroidal neovascularization in patients with angioid streaks over a long term. Methods: In this “nonrandomized,” double-center, retrospective, interventional case series, a consecutive series of patients affected with choroidal neovascularization associated with angioid streaks were treated with intravitreal ranibizumab injections (0.5 mg/0.05 mL). Best-corrected visual acuity, fundus photography, optical coherence tomography, and fluorescein angiography were examined before and after treatment. The primary endpoint was the percentage of eyes with stable or improved visual acuity at the end of follow-up (loss of less than 3 Early Treatment Diabetic Retinopathy Study lines). Secondary endpoints were the percentage of eyes with stable or decreased macular thickness on optical coherence tomography (less than a 10% increase in macular thickness) and the percentage of eyes with persistent leakage on fluorescein angiography at the last observation carried forward. Results: Thirty-five eyes of 27 patients were treated with repeated intravitreal ranibizumab injections (mean of 9.9 ± 7.2 injections, range 2–26) for a mean of 48.6 ± 17.1 months (range 8–66). At the end of follow-up, best-corrected visual acuity was stabilized or improved in 22 of 35 eyes (62.9%). Macular thickness had stabilized or decreased in 16 of 35 eyes (45.7%). At the last follow-up examination, on fluorescein angiography, no further leakage was observed in 27 of 35 eyes (77.1%). Conclusion: In this large series of patients with choroidal neovascularization associated with angioid streaks followed for 4 years, ranibizumab injections allowed stabilization of best-corrected visual acuity in most eyes. Ranibizumab appear as an effective therapeutic option in CNV associated with angioid streaks over long time.

PURPOSE:To describe the choroidal findings in a patient with Bietti's crystalline dystrophy.METHODS:A 43-year-old woman with Bietti's crystalline dystrophy underwent a complete ophthalmologic examination including enhanced depth imaging spectral domain optical coherence tomography and en face optical coherence tomography.RESULTS:We observed a severe thinning of the choroid, 123 μm in the right eye and 110 μm in the left eye. Crystal deposits were found not only in the retina but also in the choroid. En face optical coherence tomography clearly showed the intraretinal crystals as small hyperreflective dots in the different retinal layers and in the choroid.CONCLUSION:Our study gives new information on the aspect and the location of crystal deposits in the choroid and the abnormalities of the outer retina associated with the disease.

Genetic factors have been identified these last years in polypoidal choroidal vasculopathy. Because genetic factors play an important role in the pathogenesis of AMD and because AMD and PCV share similarities, the genes involved in AMD have been investigated in PCV. To date, a lot of studies and even reviews have been published on the genetic of PCV, trying to answer if the genetic background between PCV and AMD could help classifying PCV as a subtype of AMD or a distinct disease. Several genes associated to AMD have been analyzed in PCV showing significantly association such as rs10490924 of ARMS2, Y402H of CFH, C2 and C3 genes… But some differences, in particulary, in the rs10490924 of the ARMS2 gene in the allele frequency and the oddsratio between PCV and AMD are observed. The genes associated with PCV are the same genes than those associated with AMD, underligning that PCV and AMD share common pathway of development. Genetic results to date do not help clearly to answer the controversy whether PCV is a subtype of AMD or a specific entity but show interestingly that AMD and PCV, share, at least partially similar molecular mechanisms. Additional genetic and environmental factors might be implicated in the pathophysiology of PCV