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1. Age-related macular degeneration

Author

Querques G, Avellis FO, Querques L, Bandello F, and Souied EH

Subjects
Ophthalmology, RE1-994
Abstract

Giuseppe Querques¹, Fernando Onofrio Avellis1,2, Lea Querques1,3, Francesco Bandello³, Eric H Souied¹ ¹Service d'Ophtalmologie, Centre Hospitalier Intercommunal Créteil, Université Paris-Est Créteil, Créteil, France; ²Parma Eye Clinic University Hospital, Università degli Studi di Parma, Parma, Italy; ³Department of Ophthalmology, Università Vita-Salute San Raffaele Milano, Milano, Italy Date of preparation: March 3, 2011 Conflict of interest: None declaredClinical question: Is there any new knowledge about the pathogenesis and treatment of age-related macular degeneration (AMD)?Results: We now understand better the biochemical and pathological pathways involved in the genesis of AMD. Treatment of exudative AMD is based on intravitreal injection of new antivascular endothelial growth factor drugs for which there does not yet exist a unique recognized strategy of administration. No therapies are actually available for atrophic AMD, despite some experimental new pharmacological approaches.Implementation: strategy of administration, safety of intravitreal injectionKeywords: age-related macular degeneration, antivascular endothelial growth factor, choroidal neovascularization, drusen, geographic atrophy

Published
2011

2. Patients with Neovascular Age-Related Macular Degeneration Requiring Intensive Intravitreal Aflibercept Treatment: An ARIES Post Hoc Analysis

Author

Wolf, S, Holz, FG, Midena, E, Souied, EH, Lambrou, G, Machewitz, T, Allmeier, H, Mitchell, P, Wolf, S, Holz, FG, Midena, E, Souied, EH, Lambrou, G, Machewitz, T, Allmeier, H, and Mitchell, P

Abstract

INTRODUCTION: The aim of this post hoc analysis of the ARIES study is to explore the requirement for intravitreal aflibercept (IVT-AFL) treatment intervals of < 8 weeks (w) in patients with neovascular age-related macular degeneration (nAMD), and to assess vision and anatomic outcomes in such patients who require more intensive treatment. METHODS: ARIES was a multicenter, randomized, phase 3b/4 study that investigated the efficacy of two IVT-AFL proactive, individualized, treat-and-extend regimens over 2 years in treatment-naïve patients with nAMD. Patients were determined as injection-intensive if the study investigator identified that a treatment interval of < 8 w was needed and if they had ≥ 1 interval of < 8 w after three initial monthly doses. Treatment intervals could be extended subsequently if extension criteria were met. This is a post hoc analysis of patients enrolled in ARIES and statistical analysis is descriptive. RESULTS: Of 269 patients in the combined treatment arms, 23.0% (n = 62) were injection-intensive (Year 1: 13.8% [n = 37]; Year 2: 9.3% [n = 25]). Time from IVT-AFL initiation to injection-intensive determination varied (range, 16-100 w; median: 43.2 w). Mean treatment interval was 8.4 w before and 6.1 w after injection-intensive determination. Overall, 59.7% achieved treatment intervals of ≥ 8 w following injection-intensive determination. Vision improvements from baseline to Week 104 were smaller for injection-intensive patients than non-injection-intensive patients (mean [SD] best-corrected visual acuity change: + 2.3 [15.6] vs. + 5.9 [12.3] letters). Anatomic outcomes were similar between injection-intensive and non-injection-intensive patients (central retinal thickness change from baseline to Week 104: - 160 [154] vs. - 167 [136] µm). CONCLUSIONS: In ARIES, 23% of treatment-naïve patients with nAMD experienced at least one treatment interval of < 8 w. Injection-intensive patients showed improved vision and anatomic outcomes. For most, t

Published
2022

3. Association Between Visual Acuity and Fluid Compartments with Treat-and-Extend Intravitreal Aflibercept in Neovascular Age-Related Macular Degeneration: An ARIES Post Hoc Analysis

Author

Chaudhary, V, Holz, FG, Wolf, S, Midena, E, Souied, EH, Allmeier, H, Lambrou, G, Machewitz, T, Mitchell, P, Chaudhary, V, Holz, FG, Wolf, S, Midena, E, Souied, EH, Allmeier, H, Lambrou, G, Machewitz, T, and Mitchell, P

Abstract

INTRODUCTION: Recently, there has been growing interest in exploring the relationship between visual acuity and fluid localization in different retinal compartments. This post hoc analysis of the ARIES study explores the relationship between the presence of intraretinal fluid (IRF) and subretinal fluid (SRF), both at baseline and throughout treatment, and best-corrected visual acuity (BCVA) in patients with neovascular age-related macular degeneration (nAMD) treated with intravitreal aflibercept (IVT-AFL) in a treat-and-extend regimen. METHODS: ARIES (NCT02581891) was a multicenter, randomized, phase 3b/4 study comparing the efficacy of two IVT-AFL treat-and-extend regimens over 2 years in patients with treatment-naïve nAMD. This post hoc analysis explores the relationship between the presence of SRF/IRF and absolute BCVA (letter score) at baseline and fixed visits. RESULTS: In 210 patients (treat-and-extend treatment arms combined), SRF presence at baseline was associated at every time point with a numerically higher mean BCVA than if absent, with 10 more letters at week 104. IRF presence at baseline was associated at all but one time point with a numerically lower mean BCVA than if absent (week 104, 8-letter difference). Baseline SRF+IRF was associated with lower BCVA (week 104, 7-letter difference) than if only SRF was present, but higher BCVA (week 104, 8-letter difference) than if only IRF was present. Absence of SRF+IRF was not associated with better BCVA at any time point during the study. CONCLUSION: In ARIES, in patients with nAMD treated with IVT-AFL, the presence of SRF was associated with better visual acuity, whereas IRF was associated with poorer visual acuity. The findings of this post hoc analysis suggest that differentiating IRF from SRF may offer better prognostic value in guiding treatment-extension decisions than the use of combined or "any" IRF and SRF. Prospective trials are needed to validate these results and determine their clinical relevanc

Published
2022

4. 'Quiescent' CNV in AMD – characteristics and consequences

Author

Querques, G, Sacconi, R, Capuano, V, Carnevali, A, Colantuono, D, Battista, M, Borrelli, E, Miere, A, Parravano, M, Costanzo, E, Querques, L, Souied, EH, and Bandello, F

Subjects
ddc: 610, genetic structures, sense organs, 610 Medical sciences, Medicine, eye diseases
Abstract

Purpose: To analyze different clinical and anatomical features in treatment-naïve non-exudative macular neovascularizations (MNVs) secondary to age-related macular disease (AMD). Methods: In this longitudinal study with a minimum follow-up of 1 year, consecutive AMD patients with treatment-naïve[for full text, please go to the a.m. URL], 7th International Symposium on AMD: Age-related Macular Degeneration - Understanding Pathogenetic Mechanisms of Disease

Published
2020
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5. Artificial Intelligence to Stratify Severity of Age-Related Macular Degeneration (AMD) and Predict Risk of Progression to Late AMD.

Author

Bhuiyan, A, Wong, TY, Ting, DSW, Govindaiah, A, Souied, EH, Smith, RT, Bhuiyan, A, Wong, TY, Ting, DSW, Govindaiah, A, Souied, EH, and Smith, RT

Abstract

PURPOSE: To build and validate artificial intelligence (AI)-based models for AMD screening and for predicting late dry and wet AMD progression within 1 and 2 years. METHODS: The dataset of the Age-related Eye Disease Study (AREDS) was used to train and validate our prediction model. External validation was performed on the Nutritional AMD Treatment-2 (NAT-2) study. FIRST STEP: An ensemble of deep learning screening methods was trained and validated on 116,875 color fundus photos from 4139 participants in the AREDS study to classify them as no, early, intermediate, or advanced AMD and further stratified them along the AREDS 12 level severity scale. Second step: the resulting AMD scores were combined with sociodemographic clinical data and other automatically extracted imaging data by a logistic model tree machine learning technique to predict risk for progression to late AMD within 1 or 2 years, with training and validation performed on 923 AREDS participants who progressed within 2 years, 901 who progressed within 1 year, and 2840 who did not progress within 2 years. For those found at risk of progression to late AMD, we further predicted the type (dry or wet) of the progression of late AMD. RESULTS: For identification of early/none vs. intermediate/late (i.e., referral level) AMD, we achieved 99.2% accuracy. The prediction model for a 2-year incident late AMD (any) achieved 86.36% accuracy, with 66.88% for late dry and 67.15% for late wet AMD. For the NAT-2 dataset, the 2-year late AMD prediction accuracy was 84%. CONCLUSIONS: Validated color fundus photo-based models for AMD screening and risk prediction for late AMD are now ready for clinical testing and potential telemedical deployment. TRANSLATIONAL RELEVANCE: Noninvasive, highly accurate, and fast AI methods to screen for referral level AMD and to predict late AMD progression offer significant potential improvements in our care of this prevalent blinding disease.

Published
2020

6. Consensus Nomenclature for Reporting Neovascular Age-Related Macular Degeneration Data Consensus on Neovascular Age-Related Macular Degeneration Nomenclature Study Group

Author

Spaide, RF, Jaffe, GJ, Sarraf, D, Freund, KB, Sadda, SR, Staurenghi, G, Waheed, NK, Chakravarthy, U, Rosenfeld, PJ, Holz, FG, Souied, EH, Cohen, SY, Querques, G, Ohno-Matsui, K, Boyer, D, Gaudric, A, Blodi, B, Baumal, CR, Li, X, Coscas, GJ, Brucker, A, Singerman, L, Luthert, P, Schmitz-Valckenberg, S, Schmidt-Erfurth, U, Grossniklaus, HE, Wilson, DJ, Guymer, R, Yannuzzi, LA, Chew, EY, Csaky, K, Mones, JM, Pauleikhoff, D, Tadayoni, RR, Fujimoto, J, Spaide, RF, Jaffe, GJ, Sarraf, D, Freund, KB, Sadda, SR, Staurenghi, G, Waheed, NK, Chakravarthy, U, Rosenfeld, PJ, Holz, FG, Souied, EH, Cohen, SY, Querques, G, Ohno-Matsui, K, Boyer, D, Gaudric, A, Blodi, B, Baumal, CR, Li, X, Coscas, GJ, Brucker, A, Singerman, L, Luthert, P, Schmitz-Valckenberg, S, Schmidt-Erfurth, U, Grossniklaus, HE, Wilson, DJ, Guymer, R, Yannuzzi, LA, Chew, EY, Csaky, K, Mones, JM, Pauleikhoff, D, Tadayoni, RR, and Fujimoto, J

Abstract

PURPOSE: To establish a process to evaluate and standardize a state-of-the-art nomenclature for reporting neovascular age-related macular degeneration (AMD) data. DESIGN: Consensus meeting. PARTICIPANTS: An international panel of retina specialists, imaging and image reading center experts, and ocular pathologists. METHODS: During several meetings organized under the auspices of the Macula Society, an international study group discussed and codified a set nomenclature framework for classifying the subtypes of neovascular AMD and associated lesion components. MAIN OUTCOME MEASURES: A consensus classification of neovascular AMD. RESULTS: The study group created a standardized working definition of AMD. The components of neovascular AMD were defined and subclassified. Disease consequences of macular neovascularization were delineated. CONCLUSIONS: The framework of a consensus nomenclature system, a definition of AMD, and a delineation of the subtypes of neovascular AMD were developed. Establishing a uniform set of definitions will facilitate comparison of diverse patient groups and different studies. The framework presented is modified and updated readily, processes that are anticipated to occur on a periodic basis. The study group suggests that the consensus standards outlined in this article be used in future reported studies of neovascular AMD and clinical practice.

Published
2020

10. Combined Angiography for High-Quality Near-Infrared Autofluorescence Images

Author

QUERQUES , GIUSEPPE, Souied EH, Querques, Giuseppe, and Souied, Eh

Abstract

Purpose. To describe an innovative imaging technique to obtain high-quality near-infrared autofluorescence (NIA) images. Methods. Simultaneous fluorescein angiography + indocyanine green angiography (FA + ICGA) acquisition mode (without dye injection) of Spectralis HRA + OCT (Heidelberg Retina Angiograph; Heidelberg Engineering, Heidelberg, Germany), setting maximum level of illuminance, and Automatic Real-time (ART) Module (Heidelberg Engineering) to increase signal-to-noise ratio. Results. The combined confocal scanning laser ophthalmoscope technique allows the Spectralis HRA + OCT device to create high-quality NIA ART images. Conclusions. This innovative imaging technique, consisting of simultaneous FA + ICGA acquisition mode, setting maximum level of illuminance, and ART, allows the Spectralis HRA + OCT device to create high-quality NIA ART images, without requiring the need for the HRA2 (Heidelberg Retina Angiograph; Heidelberg Engineering) device.

Published
2014

12. Spontaneous Combined Full-Thickness Retinal and Pigment Epithelium Macular Hole in Age-Related Macular Degeneration

Author

Panthier C, QUERQUES , GIUSEPPE, Zerbib J, Souied EH, Panthier, C, Querques, Giuseppe, Zerbib, J, and Souied, Eh

Abstract

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.

Published
2013

13. Oral Docosahexaenoic Acid in the Prevention of Exudative Age-Related Macular Degeneration The Nutritional AMD Treatment 2 Study

Author

Souied EH, Delcourt C, Bassols A, Merle B, Zourdani A, Smith T, Benlian P., QUERQUES , GIUSEPPE, Souied, Eh, Delcourt, C, Querques, Giuseppe, Bassols, A, Merle, B, Zourdani, A, Smith, T, and Benlian, P.

Abstract

Objective: To evaluate the efficacy of docosahexaenoic acid (DHA)-enriched oral supplementation in preventing exudative age-related macular degeneration (AMD). Design: The Nutritional AMD Treatment 2 study was a randomized, placebo-controlled, double-blind, parallel, comparative study. Participants: Two hundred sixty-three patients 55 years of age or older and younger than 85 years with early lesions of age-related maculopathy and visual acuity better than 0.4 logarithm of minimum angle of resolution units in the study eye and neovascular AMD in the fellow eye. Methods: Patients were assigned randomly to receive either 840 mg/day DHA and 270 mg/day eicosapentaenoic acid (EPA) from fish oil capsules or the placebo (olive oil capsules) for 3 years. Main Outcome Measures: The primary outcome measure was time to occurrence of choroidal neovascularization (CNV) in the study eye. Secondary outcome measures in the study eye were: incidence of CNV developing in patients, changes in visual acuity, occurrence and progression of drusen, and changes in EPA plus DHA level in red blood cell membrane (RBCM). Results: Time to occurrence and incidence of CNV in the study eye were not significantly different between the DHA group (19.5 +/- 10.9 months and 28.4%, respectively) and the placebo group (18.7 +/- 10.6 months and 25.6%, respectively). In the DHA group, EPA plus DHA levels increased significantly in RBCM (+70%; P < 0.001), suggesting that DHA easily penetrated cells, but this occurred unexpectedly also in the placebo group (+9%; P = 0.007). In the DHA-allocated group, patients steadily achieving the highest tertile of EPA plus DHA levels in RBCM had significantly lower risk (-68%; P = 0.047; hazard ratio, 0.32; 95% confidence interval, 0.10-0.99) of CNV developing over 3 years. No marked changes from baseline in best-corrected visual acuity, drusen progression, or geographic atrophy in the study eye were observed throughout the study in either group. Conclusions: In patients with unilateral exudative AMD, 3 years of oral DHA-enriched supplementation had the same effect on CNV incidence in the second eye as did the placebo. However, RBCM fatty acid measurements revealed that CNV incidence was significantly reduced in DHA-supplemented patients showing a steadily high EPA plus DHA index over 3 years. (C) 2013 by the American Academy of Ophthalmology.

Published
2013

14. MULTIMODAL IMAGING OF EARLY STAGE 1 TYPE 3 NEOVASCULARIZATION WITH SIMULTANEOUS EYE-TRACKED SPECTRAL-DOMAIN OPTICAL COHERENCE TOMOGRAPHY AND HIGH-SPEED REAL-TIME ANGIOGRAPHY

Author

QUERQUES , GIUSEPPE, Souied EH, Freund KB, Querques, Giuseppe, Souied, Eh, and Freund, Kb

Abstract

Purpose: To analyze the multimodal imaging features of eyes with early Type 3 neovascularization showing primarily intraretinal proliferation without evidence of choroidal involvement. Methods: The multimodal imaging data for a consecutive series of patients with new onset stage 1 Type 3 neovascularization were reviewed and the changes at the site of early lesion development were analyzed. Results: Nineteen eyes of 19 patients (12 women, mean age 79.9 +/- 6.3 years) were included for analysis. Both fluorescein angiography and indocyanine green angiography showed a focal hyperfluorescence corresponding to the intraretinal vascular complex (early Type 3 neovascularization) and disclosed a single retinal arteriole feeding this lesion. There was no angiographic evidence of a retinal-choroidal anastomosis or underlying Type 1 or Type 2 neovascularization. In all study eyes, eye-tracked spectral-domain optical coherence tomography showed the intraretinal neovascular complex as a hyperreflective lesion located in the outer retina, which appeared adherent to the underlying retinal pigment epithelium. In all eyes, there seemed to be a focal discontinuity of the retinal pigment epithelium band through which the hyperreflective intraretinal lesions communicated with the underlying material of medium reflectivity within drusen or drusenoid pigment epithelium detachment. With spectral-domain optical coherence tomography, clear evidence of a communication with the choroid was not detected. Conclusion: Multimodal imaging seems to support available clinicopathologic findings showing primarily intraretinal proliferation and anastomoses between retinal vessels and evolving Type 1 (subretinal pigment epithelium) neovascular tissue within underlying drusen or drusenoid pigment epithelium detachments without evidence of anastomoses with the choroidal circulation.

Published
2013

16. Omega-3, Essential and Monounsaturated Fatty Acid Deficiency in Exudative Age-related Macular Degeneration: A survey from the NAT-2 Study

Author

Benlian, P., Zourdani, A., Belabbas, K., Giuseppe Querques, Souied, Eh, NAT2 Study Group, Benlian, P, Zourdani, A, Belabbas, K, Querques, Giuseppe, Souied, Eh, and NAT2 Study, Group

Subjects
age-related macular degeneration • nutritional factors • choroid: neovascularization [Keywords]
Abstract

Purpose:To evaluate lipid, lipoprotein and fatty acid profile in patients with advanced exudative Age-related Macular Degeneration (AMD) participant to the NAT2 study compared to normal sighted non-AMD individuals (CON). The NAT2 study (ARVO2011 #6642) showed overall reduced 3-year incidence (27% vs 33% expected) of choroidal neovessels (CNV), similarly in patients randomly allocated oral Docosa-Hexaenoic Acid (DHA 840mg/d) or Olive Oil (OLO 602mg/d). Since cohort studies suggested that daily OLO or DHA intake could prevent exudative AMD, here we explored if changes in circulating and cellular FA could account for main findings of the NAT2 study. Methods:Exudative AMD patients (N=289, 188F/101M, Age=74.2 ±6.6y) had legal blindness (LogMar 1.044) and CNV in one eye at study entry. Age and sex matched normal sighted controls (n=102, 60F/42M, Age=73.0 ±6.0y) were recruited in parallel with NAT2 participants after ophthalmologic and fundus examination. Fasting plasma lipoproteins were measured enzymatically. Plasma and erythrocyte membrane fatty acid (FA) profile was assessed by Gas Chromatography. Results:Except for lower plasma TG (1.12 vs 1.33 mmol/L, p=0.002) plasma lipoprotein profile was similar in AMD and CON groups. In both groups HDL cholesterol was higher in women than in men (AMD: 1.89F vs 1.56M, CON: 1.89F vs 1.70M mmol/L, p

Published
2012

17. Functional Correlates Of Autofluorescence And Optical Coherence Tomography Imaging In Dry Age-related Macular Degeneration

Author

Querques, L., Giuseppe Querques, Forte, R., francesco bandello, Souied, Eh, Querques, L, Querques, Giuseppe, Forte, R, Bandello, Francesco, and Souied, Eh

Subjects
imaging methods (CT, FA, ICG, MRI, OCT, RTA, SLO, ultrasound) • age-related macular degeneration • drusen [Keywords]
Abstract

Purpose:To investigate the functional correlations of autofluorescence imaging and optical coherence tomography (OCT) in dry age-related macular degeneration (AMD). Methods:Twenty-nine consecutive patients with dry AMD underwent a complete ophthalmologic examination, including best-corrected visual acuity (BCVA), blue fundus autofluorescence (FAF), near-infrared autofluorescence (NIA), and spectral-domain (SD)-OCT with integrated microperimetry. Results:A total of 58 eyes were included. Mean BCVA was 0.28±0.3 LogMAR. Overall, 2842 points were analyzed as regards FAF and NIA patterns, the status of inner segment/outer segment (IS/OS) interface, and retinal sensitivity. We observed a good correlation between the FAF and NIA patterns for all the points graded (increased FAF/NIA, Pearson’s rho=0.6, p=0.02; decreased FAF/NIA, Pearson’s rho=0.7, p=0.01; normal FAF/NIA, Pearson’s rho=0.7, p=0.01). Mean retinal sensitivity was significantly reduced in case of decreased FAF (4.73±2.23dB), or increased FAF (4.75± 2.39 dB) compared with normal FAF (7.44±2.34dB)(p=0.001). Mean retinal sensitivity was significantly reduced in case of decreased NIA (3.87±2.28dB), compared with increased NIA (5.76±2.44dB)(p=0.02); mean retinal sensitivity in case of increased NIA was significantly reduced compared with normal NIA (7.15±2.38dB)(p=0.002). On SD-OCT, there was a high inverse correlation between retinal sensitivity and rate of disruptions in IS/OS interface (Pearson’s rho = -0.72, p=0.001). Conclusions:In the current series, a reduced retinal sensitivity consistently correlated with decreased FAF/NIA and a disrupted IS/OS interface. Increased NIA may represent a useful method for detection of retinal abnormalities early in dry AMD development.

Published
2012

19. The NAT-2 Study: genetic analysis

Author

Souied, Eh, Delcourt, C., Puche, N., Giuseppe Querques, Zourdani, A., Benlian, P., NAT2 study group, Souied, Eh, Delcourt, C, Puche, N, Querques, Giuseppe, Zourdani, A, Benlian, P, and NAT2 study, Group

Subjects
age-related macular degeneration • genetics • lipids [Keywords]
Abstract

Purpose:The NAT-2 (Nutritional AMD treatment-2) study was a randomized, placebo-controlled, double-blind, parallel, comparative study. The purpose of NAT-2 was to evaluate the efficacy of oral docosahexaenoic acid (DHA) supplementation for preventing exudative age-related macular degeneration (AMD). The purpose of this ancillary study was to correlate the effects of DHA supplementation with genetic background. Methods:263 patients (Full Analysis Set) aged ≥55 and

Published
2012

20. En Face OCT And Fibrovascular Pigment Epithelium Detachement In AMD

Author

Coscas, G., Coscas, F., Giuseppe Querques, Massamba, N., Uzzan, J., francesco bandello, Souied, Eh, Coscas, G, Coscas, F, Querques, Giuseppe, Massamba, N, Uzzan, J, Bandello, Francesco, and Souied, Eh

Subjects
age-related macular degeneration • imaging methods (CT, FA, ICG, MRI, OCT, RTA, SLO, ultrasound) • neovascularization [Keywords]
Abstract

Purpose:Spectral Domain Optical Coherence Tomography (SD-OCT) is an imaging technique that has become one of the reference method of examinations for the diagnosis and follow-up of patients with wet age-related macular degeneration (AMD).The purpose of this study was to obtain segmentation of SD-OCT according to a frontal scan technique in EDI mode and to analyse neovascularization in fibro-vascular pigment epithelial detachment (PED) in AMD by "en face" SD-OCT. Methods:Series of 29 patients with subfoveal fibrovascular pigment epithelial detachment (FV-PED) in age-related macular degeneration.Fluorescein angiography, indocyanine green angiography and spectral domain optical coherence tomography (SD-OCT; Spectralis, Heidelberg, Germany) images were analysed.Volume acquisition of 97 EDI sections at 30 µm intervals was obtained, with a summation of 9 images for each retrofoveal scan.The image was superimposed on infrared and SLO ICG images to confirm the neovascularization. Results:The hyper-reflective course of choroidal neovascularization was visualized within the hyporeflective fibrovascular pigment epithelial detachment by "en face" optical coherence tomography (24/29 cases). In 22 cases, the fluid accumulation was visible behind the choroidal newvessels and the normal choroid vessels became visible ,more deeper only . The pattern of CNV was correlated and confirmed on SLO-ICG pictures for all cases.The 5 other cases presented with associated predominant fibrosis inducing homogenous moderate hyper reflectivity that hidden the neovascular network. Conclusions:Conventional Spectral Domain Optical Coherence Tomography only provides antero-posterior sections that mainly visualize the exudative reaction of the neovascular network.This new "en face" Spectral Domain Optical Coherence Tomography method of imaging allows analysis of not only the contours and the shape of the detachment but also, and most importantly, visualizes the choroidal neovascular network in fibro-vascular PED.This imaging is obtained by means of an "en face" frontal mode with dynamic analysis, section by section, on standard OCT or SLO-ICG images with point-by-point correspondence.Dynamic segmentation of the macula by "En face" SD OCT allows direct visualisation of choroidal neovascularization within a pigment epithelial detachment and their localization, without dye injection .

Published
2012

23. Three-Dimensional Spectral-Domain Optical Coherence Tomography Features Of Retinal Choroidal Anastomoses

Author

Avellis FO, Querques L, Souied EH, QUERQUES , GIUSEPPE, Avellis, Fo, Querques, Giuseppe, Querques, L, and Souied, Eh

Subjects
imaging methods (CT, FA, ICG, MRI, OCT, RTA, SLO, ultrasound) • retinal pigment epithelium • choroid: neovascularization [Keywords]
Abstract

Purpose:To analyze three-dimensional (3D) features of retinal choroidal anastomoses (RCA) in age-related macular degeneration (AMD) using spectral-domain optical coherence tomography (SD-OCT). Methods:This is a retrospective chart review of consecutive patients diagnosed with RCA that underwent 3D SD-OCT with CirrusTM HD-OCT (Carl Zeiss Meditec, Inc) in a retinal practice specializing in AMD, between July 2007 and June 2010. A correlation between 3D SD-OCT and fluorescein angiography (FA) images was performed. Results:Fifteen eyes of 12 patients were included in the analysis. In eyes showing a focal staining on FA, 3D OCT revealed small localized dome-shaped retinal pigment epithelium (RPE) elevation without evidence of intraretinal hypereflective lesions. In eyes showing a hot spot without pigment epithelium detachment (PED) on FA, 3D OCT revealed a well-demarcated prominence of RPE with steep margins, with evidence of overlying intraretinal hypereflective lesions. In eyes showing a hot spot with PED on FA, 3D OCT revealed a convex RPE prominence with a peak at the top. Conclusions:3D SD-OCT provides a map of the retina and RPE, allowing a realistic visualization of the different RCA shapes. 3D SD-OCT may also give information about the lesion’s localization.

Published
2011

25. Spectral-domain Optical Coherence Tomography Of Early Onset Large Colloid Drusen

Author

Guigui, B., Giuseppe Querques, Leveziel, N., Massamba, N., Coscas, G., Souied, Eh, Guigui, B, Querques, Giuseppe, Leveziel, N, Massamba, N, Coscas, G, and Souied, Eh

Subjects
retina • imaging/image analysis: clinical • drusen [Keywords]
Abstract

Purpose:Large colloid drusen (LCD) are a kind of early onset drusen (EOD) which have recently been reported. Aim of this study was to describe morphological features in patients affected with LCD using high-resolution spectral domain optical coherence tomography (SD-OCT). Methods:Complete ophthalmologic examination including spectral domain OCT, was performed in 22 eyes of 11 consecutive patients Results:Mean age was 35 years old at diagnosis and mean visual acuity was 20/25. SD-OCT scans showed in all eyes multiple dome-shaped RPE detachments corresponding to the drusen. Most LCD appeared convex with medium and homogeneous internal reflectivity. Retina overlying LCD appeared wavy and overall thinned. Prominent diffuse hyper reflective haze in the photoreceptor nuclear layer over drusen was noted in 73%. We did not observe any association with geographic atrophy or choroidal neovascularization in none of the 22 eyes. Conclusions:The peculiar SD-OCT features reported in the current series give insight on the histology of LCD. Further studies with follow-up evaluation and possibly histological evaluation are needed to clarify the clinical significance of LCD.

Published
2011

26. Oct-SD Versus Fluorescein Angiography For Evaluation Of Exudative Features In Wet Age-related Macular Degeneration

Author

Scemama Timsit, C., Giuseppe Querques, Terrada, C., Letien, V., Massamba, N., Mimoun, G., Souied, Eh, Scemama Timsit, C, Querques, Giuseppe, Terrada, C, Letien, V, Massamba, N, Mimoun, G, and Souied, Eh

Subjects
age-related macular degeneration • retina • imaging/image analysis: clinical [Keywords]
Abstract

Purpose:Imaging for evaluation of exudative signs in wet age-related macular degeneration (AMD) can be performed either on optical coherence tomography (OCT), fluorescein angiography (FA), or both. This study compares and analyzes OCT versus with FA exudative features in 117 eyes of 106 patients, during ranibizumab therapy in exudative AMD. Our purpose was to investigate whether examination with Spectral Domain OCT (SD-OCT) alone is sufficient to ascertain the need of re-treatment with ranibizumab in exudative AMD or if FA is needed. Methods:Retrospective, comparative study of 106 patients (117 eyes) with exudative AMD including 50 occult choroidal neovascularisation (type 1), 22 polypoidal choroidal vasculopathy (PCV), 23 chorioretinal anastomosis (CRA) and 22 classic choroidal neovascularisation (type 2). All cases were selected after the 6 first months of treatment by ranibizumab. SD-OCT and FA (Spectralis HRA-OCT Heidelberg Engineering, Heidelberg, Germany) were analyzed retrospectively and separately by 2 different experts (double reading). SD-OCT criteria for judgment of persistence of activity of the lesion were presence of any fluid, macular edema. FA criterion for judgment of persistence of activity of the lesion was leakage on late phases. The results of both imaging were compared in all sub-groups of wet AMD. Results:The mean age was 76,6 years; 29.8% were male, 70,2% female. In total among 117 eyes there was a 16,2 % conflict (19/117) between OCT and AF features. The divergence between FA and OCT was observed in 16% (8/50) of type 1, in 4.5 % (1/22) of CRA, in 4.3% (1/23) of PVC and in 50 % (11/22) of type 2 cases. Conclusions:Several studies demonstrated advantage of OCT-SD in detecting minor structural changes (cystoid macular edema, subretinal fluid, retinal pigment epithelium detachment increase, photoreceptor atrophy···). Our study shows the complementarities of these two imaging approaches. We suggest that FA should be performed on a regular basis in the follow-up of exudative AMD patients treated by anti-VEGF, particularly for type 2 CNV.

Published
2011

27. Spectral Domain OCT Analysis of Reticular Pseudodrusen Progression

Author

Giuseppe Querques, Coscas, F., Massamba, N., Querques, L., Souied Eh, Bandello F., Querques, Giuseppe, Coscas, F, Massamba, N, Querques, L, and Bandello F., Souied EH

Abstract

Purpose: To analyze reticular pseudodrusen progression over time using spectral domain OCT (SD-OCT). Methods: SD-OCT scans of consecutive patients with reticular pseudodrusen were analyzed at baseline (first SD-OCT examination) and 24 ± 2 months later using eye-tracking software for repeated OCT examination. Results: At baseline, SD-OCT scans of 48 included eyes showed collections of various sized material above the retinal pigment epithelium. Twenty-four months later, on SD-OCT scans guided on first examination, most of this material either thickened or faded, accompanied by inner segment/outer segment junction disruption and loss. Conclusion: Progression of reticular pseudodrusen is accompanied by photoreceptor disruption and loss.

Published
2011

29. The Spectrum of Subclinical Vitelliform Macular Dystrophy in Subjects With Mutations in the BEST1 Gene

Author

Giuseppe Querques, Zerbib, J., Santacroce, R., Margaglione, M., Delphin, N., Querques, L., Rozet, Jm, Souied Eh, Kaplan J., Querques, Giuseppe, Zerbib, J, Santacroce, R, Margaglione, M, Delphin, N, Querques, L, Rozet, Jm, and Kaplan J., Souied EH

Abstract

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.

Published
2010

30. Integrated Imaging of Avascular Pigment Epithelium Detachment in Age-Related Macular Degeneration

Author

Souied, Eh, Kerrate, H., Massamba, N., Letien, V., Querques, L., Leveziel, N., Coscas, G., Giuseppe Querques, Souied, Eh, Kerrate, H, Massamba, N, Letien, V, Querques, L, Leveziel, N, Coscas, G, and Querques, Giuseppe

Subjects
age-related macular degeneration • imaging methods (CT, FA, ICG, MRI, OCT, RTA, SLO, ultrasound) • imaging/image analysis: clinical [Keywords]
Abstract

Purpose:To analyze the integrated confocal scanning laser ophthalmoscopy (cSLO) fundus imaging of avascular pigment epithelial detachment (PED) and, using real-time eye tracking technology, the corresponding high-resolution spectral-domain optical coherence tomography (SD-OCT) B-scan features in a prospective observational case series. Methods:Consecutive AMD patients with avascular PED were prospectively analyzed as regards best-corrected visual acuity (BCVA), infrared (IR) reflectance, fundus autofluorescence (FAF) fluorescein angiographic (FA) and indocyanine green angiography (ICGA) by cSLO technology and corresponding SD-OCT. Criteria for avascular PED were large PED without hyperfluorescence on late phase of ICG, at baseline and repeated at month 3. Results:A total of 19 eyes of 14 patients (4 male and 10 female; mean age 69.6 ± 7.8 years) were included for analysis. Mean follow-up was 9.9 ± 6.9 months. Mean baseline BCVA was 20/32 and mean BCVA at last follow up visit was 20/40 (p>0.05). In all eyes, a dark area of inhomogeneous decreased IR reflectance, matching with increased fluorescence on FAF and late FA frames and hypocyanescence on late ICGA frames, was consistent with serous accumulation of the avascular PED. SD-OCT showed mainly hyporeflective fluid, with some collections of hypereflective material within the PED. A sharp border of increased IR reflectance, matching with a halo of reduced fluorescence on both FAF and late FA frames, appeared as a sharp hypocyanescent border on late ICGA frames, represented the abrupt elevation of the RPE on SD-OCT. A highly refelective (IR) and hyperautofluorescent lesion disposed in a reticular pattern, matching with a reticular area of decreased fluorescence (FA) and cyanescence (ICGA) was responsible, on SD-OCT, for dense hypereflective deposits seen beneath and within the sensory retina. In one eye (1/19), a CNV developed 12 months after the diagnosis of avascular PED. Conclusions:Integrated cSLO imaging and corresponding SD-OCT, shows peculiar reticular features of avascular PED and possibly allows distinguish this clinical identity from neovascular PED in AMD.

Published
2010

31. Analysis of the Progressive Phases Establishing Retinal-Choroidal Anastomosis (RCA), Using Confocal Scanning Laser Ophthalmoscopy (cSLO) Angiography and Corresponding (Eye-Tracked) Spectral-Domain Optical Coherence Tomography (SD-OCT)

Author

Giuseppe Querques, Atmani, K., Berboucha, E., Leveziel, N., Martinelli, D., Querques, L., Coscas, G., Soubrane, G., Souied, Eh, Querques, Giuseppe, Atmani, K, Berboucha, E, Leveziel, N, Martinelli, D, Querques, L, Coscas, G, Soubrane, G, and Souied, Eh

Subjects
age-related macular degeneration • imaging/image analysis: clinical • imaging methods (CT, FA, ICG, MRI, OCT, RTA, SLO, ultrasound) [Keywords]
Abstract

Purpose:To propose a classification for the progressive phases establishing retinal-choroidal anastomosis (RCA), using confocal scanning laser ophthalmoscopy (cSLO) angiography and corresponding (eye-tracked) spectral-domain optical coherence tomography (SD-OCT). Methods:We retrospectively evaluated the angiographic and corresponding tomographic features for all consecutive eyes with RCA, who underwent HRA (Heidelberg Retina Angiograph)+Spectralis SD-OCT over a 18-month period. Results:Thirty eyes of 27 patients were included for analysis. In 7 / 8 eyes showing a focal staining on cSLO angiography, the corresponding SD-OCT scan showed a focal retinal pigment epithelium (RPE) erosion ("erosion sign") over a small, localized RPE elevation. In 9 / 10 eyes showing a typical "hot spot" in the late cSLO angiographic frames, and absence of a serosanguineous pigment epithelium detachment (PED), the corresponding SD-OCT scan showed a focal RPE break leaving 2 free RPE flaps ("flap sign") at the level of a small, localized RPE elevation. In 11 / 12 eyes showing a typical "hot spot" in the late cSLO angiographic frames, and presence of a serosanguineous PED, the corresponding (eye-tracked) SD-OCT scan showed, at the level of a large serosanguineous RPE detachment, a focal funnel-shaped RPE joining an inverted focal funnel-shaped inner neuroepithelium ("kissing sign"). Presence of the typical "hot spot" in the late angiographic frames, in eyes showing a serosanguineous PED, as well as the "kissing sign" on SD-OCT, were significantly associated with presence of the intraretinal hemorrhages, SRF and CME (p

Published
2010

32. Large DNA Bank of French Patients Affected With Exudative AMD

Author

Souied, Eh, Leveziel, N., Zerbib, J., Cohen, S., Korobelnik, J., Sahel, J., Letien, V., Giuseppe Querques, Richard, F., Soubrane, G., Souied, Eh, Leveziel, N, Zerbib, J, Cohen, S, Korobelnik, J, Sahel, J, Letien, V, Querques, Giuseppe, Richard, F, and Soubrane, G.

Subjects
age-related macular degeneration • genetics • candidate gene analysis [Keywords]
Abstract

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.

Published
2009

33. In vivo Visualization of Photoreceptor Layer and Lipofuscin Accumulation in Stargardt's Disease / Fundus Flavimaculatus by High Definition Optical Coherence Tomography

Author

Giuseppe Querques, Prato, R., Iaculli, C., Bux, Av, Delle Noci N, Angulo Bocco V., Soubrane, G., Souied, Eh, Querques, Giuseppe, Prato, R, Iaculli, C, Bux, Av, Angulo Bocco V., Delle Noci N, Soubrane, G, and Souied, Eh

Subjects
imaging methods (CT, FA, ICG, MRI, OCT, RTA, SLO, ultrasound) • degenerations/dystrophies • retinal degenerations: hereditary [Keywords]
Abstract

Purpose:To assess photoreceptor (PR) morphology in patients with Stargardt’s disease (STGD) and fundus flavimaculatus (FFM) using high definition optical coherence tomography (HD-OCT, OCT 4000 Cirrus, Humphrey-Zeiss, San Leandro, California). Methods:This was a prospective observational case series. Eight consecutive patients with STGD and FFM were prospectively examined by HD-OCT, a high-speed OCT system using spectral/Fourier domain detection, with an axial image resolution of 5 µm. Results:A total of 15 eyes were included in the study. HD-OCT was capable of visualizing regions of transverse PR loss in the foveal region. Moreover, we observed hyperreflective deposits which we classified in two types: type 1 lesions located in the inner part of the retinal pigment epithelium layer and type 2 lesions located at the level of the outer nuclear layer. Presence of type 1 lesion alone was associated with absence of complete loss of the PR layer in the foveal region in all eyes; presence of type 2 lesion was always associated with presence of type 1 lesions, and often (4/6 eyes) associated with complete loss of the PR layer within the foveal region. In addition, BCVA impairment showed a statistically significant correlation to the presence of complete loss of the PR layer in the foveal region (p=.0001), as well as to presence of type 2 flecks (p=.03). Conclusions:The possibility of in vivo visualization of the PR layer and of hyperreflective deposits in STGD/FFM might yield insight into genotypic/ phenotypic correlation, disease progression, and possibly treatment monitoring.

Published
2008

36. Étude NAT-3 : supplémentation en DHA pour les patients atteints de forme tardive de maladie de Stargardt. NAT-3 study: DHA supplementation for late onset Stargardt disease

Author

Souied, Eh, Benlian, P., Leveziel, N., Gawrilow, P., Letien, V., Giuseppe Querques, Voigt, M., Kaplan, J., Coscas, G., Soubrane, G., Souied, Eh, Benlian, P, Leveziel, N, Gawrilow, P, Letien, V, Querques, Giuseppe, Voigt, M, Kaplan, J, Coscas, G, and Soubrane, G.

Abstract

Objectif : Analyser les effets d’une supplémentation en DHA (acide docosahexae- noïque) chez des patients atteints de forme tardive de maladie de Stargardt. Matériels et Méthodes : Douze patients non apparentés (4 femmes, 8 hommes) avec une moyenne d’âge de 46 ans (24-72) ont été inclus. Du DHA sous forme de triglycérides à la dose de 840 mg/j a été donné aux 12 patients durant 6 mois. Tous les patients ont bénéficié d’un examen ophtalmologique complet incluant mesure de l’acuité visuelle, clichés couleurs du fond d’œil, clichés en autofluorescence, angio- graphie à la fluorescéine, ICG, OCT et ERG multifocal à l’inclusion et au 6e mois. Résultats : Deux sur les 12 patients ont eu une nette amélioration de l’acuité visuelle et des données de l’ERG multifocal. Pour le premier, le pic d’amplitude de l’onde a est passé de 66 à 75,4 OD et 24,5 à 49,1 OG. Le pic d’amplitude de l’onde b est passé de 122 à 157 OD, et 102 à 149 OG. Pour le second, seul l’œil droit a été inclusdans l’étude en raison de néovaisseaux choroïdiens à l’œil gauche. Les pics d’ampli- tudes des ondes a et b ont respectivement augmenté de 11,8 à 72,1 et de 53 à 185. Discussion : Un effet bénéfique du DHA a pu être mis en évidence chez 2/12 patients. L’analyse des gènes ABCA4 et ELOVL4 est en cours afin d’essayer d’établir des facteurs prédictifs d’efficacité du traitement par DHA. Conclusion : Cette étude supporte l’hypothèse d’un effet bénéfique du DHA chez certains patients atteints de maladie de Stargardt.

Published
2005

37. Reticular Pseudodrusen

Author

Giuseppe Querques, Srour, M., Massamba, N., Puche, N., Souied, Eh, Querques, Giuseppe, Srour, M, Massamba, N, Puche, N, and Souied, Eh

Subjects
Ophthalmology
Published
2013

38. Seven new loci associated with age-related macular degeneration

Author

Fritsche, LG, Chen, W, Schu, M, Yaspan, BL, Yu, Y, Thorleifsson, G, Zack, DJ, Arakawa, S, Cipriani, V, Ripke, S, Igo, RP, Buitendijk, GHS, Sim, X, Weeks, DE, Guymer, RH, Merriam, JE, Francis, PJ, Hannum, G, Agarwal, A, Armbrecht, AM, Audo, I, Aung, T, Barile, GR, Benchaboune, M, Bird, AC, Bishop, PN, Branham, KE, Brooks, M, Brucker, AJ, Cade, WH, Cain, MS, Campochiaroll, PA, Chan, C-C, Cheng, C-Y, Chew, EY, Chin, KA, Chowers, I, Clayton, DG, Cojocaru, R, Conley, YP, Cornes, BK, Daly, MJ, Dhillon, B, Edwards, A, Evangelou, E, Fagemess, J, Ferreyra, HA, Friedman, JS, Geirsdottir, A, George, RJ, Gieger, C, Gupta, N, Hagstrom, SA, Harding, SP, Haritoglou, C, Heckenlively, JR, Hoz, FG, Hughes, G, Ioannidis, JPA, Ishibashi, T, Joseph, P, Jun, G, Kamatani, Y, Katsanis, N, Keilhauer, CN, Khan, JC, Kim, IK, Kiyohara, Y, Klein, BEK, Klein, R, Kovach, JL, Kozak, I, Lee, CJ, Lee, KE, Lichtner, P, Lotery, AJ, Meitinger, T, Mitchell, P, Mohand-Saied, S, Moore, AT, Morgan, DJ, Morrison, MA, Myers, CE, Naj, AC, Nakamura, Y, Okada, Y, Orlin, A, Ortube, MC, Othman, MI, Pappas, C, Park, KH, Pauer, GJT, Peachey, NS, Poch, O, Priya, RR, Reynolds, R, Richardson, AJ, Ripp, R, Rudolph, G, Ryu, E, Sahel, J-A, Schaumberg, DA, Scholl, HPN, Schwartz, SG, Scott, WK, Shahid, H, Sigurdsson, H, Silvestri, G, Sivakumaran, TA, Smith, RT, Sobrin, L, Souied, EH, Stambolian, DE, Stefansson, H, Sturgill-Short, GM, Takahashi, A, Tosakulwong, N, Truitt, BJ, Tsironi, EE, Uitterlinden, AG, van Duijn, CM, Vijaya, L, Vingerling, JR, Vithana, EN, Webster, AR, Wichmann, H-E, Winkler, TW, Wong, TY, Wright, AF, Zelenika, D, Zhang, M, Zhao, L, Zhang, K, Klein, ML, Hageman, GS, Lathrop, GM, Stefansson, K, Allikmets, R, Baird, PN, Gorin, MB, Wang, JJ, Klaver, CCW, Seddon, JM, Pericak-Vance, MA, Iyengar, SK, Yates, JRW, Swaroop, A, Weber, BHF, Kubo, M, DeAngelis, MM, Leveillard, T, Thorsteinsdottir, U, Haines, JL, Farrer, LA, Heid, IM, Abecasis, GR, Fritsche, LG, Chen, W, Schu, M, Yaspan, BL, Yu, Y, Thorleifsson, G, Zack, DJ, Arakawa, S, Cipriani, V, Ripke, S, Igo, RP, Buitendijk, GHS, Sim, X, Weeks, DE, Guymer, RH, Merriam, JE, Francis, PJ, Hannum, G, Agarwal, A, Armbrecht, AM, Audo, I, Aung, T, Barile, GR, Benchaboune, M, Bird, AC, Bishop, PN, Branham, KE, Brooks, M, Brucker, AJ, Cade, WH, Cain, MS, Campochiaroll, PA, Chan, C-C, Cheng, C-Y, Chew, EY, Chin, KA, Chowers, I, Clayton, DG, Cojocaru, R, Conley, YP, Cornes, BK, Daly, MJ, Dhillon, B, Edwards, A, Evangelou, E, Fagemess, J, Ferreyra, HA, Friedman, JS, Geirsdottir, A, George, RJ, Gieger, C, Gupta, N, Hagstrom, SA, Harding, SP, Haritoglou, C, Heckenlively, JR, Hoz, FG, Hughes, G, Ioannidis, JPA, Ishibashi, T, Joseph, P, Jun, G, Kamatani, Y, Katsanis, N, Keilhauer, CN, Khan, JC, Kim, IK, Kiyohara, Y, Klein, BEK, Klein, R, Kovach, JL, Kozak, I, Lee, CJ, Lee, KE, Lichtner, P, Lotery, AJ, Meitinger, T, Mitchell, P, Mohand-Saied, S, Moore, AT, Morgan, DJ, Morrison, MA, Myers, CE, Naj, AC, Nakamura, Y, Okada, Y, Orlin, A, Ortube, MC, Othman, MI, Pappas, C, Park, KH, Pauer, GJT, Peachey, NS, Poch, O, Priya, RR, Reynolds, R, Richardson, AJ, Ripp, R, Rudolph, G, Ryu, E, Sahel, J-A, Schaumberg, DA, Scholl, HPN, Schwartz, SG, Scott, WK, Shahid, H, Sigurdsson, H, Silvestri, G, Sivakumaran, TA, Smith, RT, Sobrin, L, Souied, EH, Stambolian, DE, Stefansson, H, Sturgill-Short, GM, Takahashi, A, Tosakulwong, N, Truitt, BJ, Tsironi, EE, Uitterlinden, AG, van Duijn, CM, Vijaya, L, Vingerling, JR, Vithana, EN, Webster, AR, Wichmann, H-E, Winkler, TW, Wong, TY, Wright, AF, Zelenika, D, Zhang, M, Zhao, L, Zhang, K, Klein, ML, Hageman, GS, Lathrop, GM, Stefansson, K, Allikmets, R, Baird, PN, Gorin, MB, Wang, JJ, Klaver, CCW, Seddon, JM, Pericak-Vance, MA, Iyengar, SK, Yates, JRW, Swaroop, A, Weber, BHF, Kubo, M, DeAngelis, MM, Leveillard, T, Thorsteinsdottir, U, Haines, JL, Farrer, LA, Heid, IM, and Abecasis, GR

Abstract

Age-related macular degeneration (AMD) is a common cause of blindness in older individuals. To accelerate the understanding of AMD biology and help design new therapies, we executed a collaborative genome-wide association study, including >17,100 advanced AMD cases and >60,000 controls of European and Asian ancestry. We identified 19 loci associated at P < 5 × 10(-8). These loci show enrichment for genes involved in the regulation of complement activity, lipid metabolism, extracellular matrix remodeling and angiogenesis. Our results include seven loci with associations reaching P < 5 × 10(-8) for the first time, near the genes COL8A1-FILIP1L, IER3-DDR1, SLC16A8, TGFBR1, RAD51B, ADAMTS9 and B3GALTL. A genetic risk score combining SNP genotypes from all loci showed similar ability to distinguish cases and controls in all samples examined. Our findings provide new directions for biological, genetic and therapeutic studies of AMD.

Published
2013

39. Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration

Author

Yu, Y, Bhangale, TR, Fagerness, J, Ripke, S, Thorleifsson, G, Tan, PL, Souied, EH, Richardson, AJ, Merriam, JE, Buitendijk, GHS, Reynolds, R, Raychaudhuri, S, Chin, KA, Sobrin, L, Evangelou, E, Lee, PH, Lee, AY, Leveziel, N, Zack, DJ, Campochiaro, B, Campochiaro, P, Smith, RT, Barile, GR, Guymer, RH, Hogg, R, Chakravarthy, U, Robman, LD, Gustafsson, O, Sigurdsson, H, Ortmann, W, Behrens, TW, Stefansson, K, Uitterlinden, AG, van Duijn, CM, Vingerling, JR, Klaver, CCW, Allikmets, R, Brantley, MA, Baird, PN, Katsanis, N, Thorsteinsdottir, U, Ioannidis, JPA, Daly, MJ, Graham, RR, Seddon, JM, Yu, Y, Bhangale, TR, Fagerness, J, Ripke, S, Thorleifsson, G, Tan, PL, Souied, EH, Richardson, AJ, Merriam, JE, Buitendijk, GHS, Reynolds, R, Raychaudhuri, S, Chin, KA, Sobrin, L, Evangelou, E, Lee, PH, Lee, AY, Leveziel, N, Zack, DJ, Campochiaro, B, Campochiaro, P, Smith, RT, Barile, GR, Guymer, RH, Hogg, R, Chakravarthy, U, Robman, LD, Gustafsson, O, Sigurdsson, H, Ortmann, W, Behrens, TW, Stefansson, K, Uitterlinden, AG, van Duijn, CM, Vingerling, JR, Klaver, CCW, Allikmets, R, Brantley, MA, Baird, PN, Katsanis, N, Thorsteinsdottir, U, Ioannidis, JPA, Daly, MJ, Graham, RR, and Seddon, JM

Abstract

Despite significant progress in the identification of genetic loci for age-related macular degeneration (AMD), not all of the heritability has been explained. To identify variants which contribute to the remaining genetic susceptibility, we performed the largest meta-analysis of genome-wide association studies to date for advanced AMD. We imputed 6 036 699 single-nucleotide polymorphisms with the 1000 Genomes Project reference genotypes on 2594 cases and 4134 controls with follow-up replication of top signals in 5640 cases and 52 174 controls. We identified two new common susceptibility alleles, rs1999930 on 6q21-q22.3 near FRK/COL10A1 [odds ratio (OR) 0.87; P = 1.1 × 10(-8)] and rs4711751 on 6p12 near VEGFA (OR 1.15; P = 8.7 × 10(-9)). In addition to the two novel loci, 10 previously reported loci in ARMS2/HTRA1 (rs10490924), CFH (rs1061170, and rs1410996), CFB (rs641153), C3 (rs2230199), C2 (rs9332739), CFI (rs10033900), LIPC (rs10468017), TIMP3 (rs9621532) and CETP (rs3764261) were confirmed with genome-wide significant signals in this large study. Loci in the recently reported genes ABCA1 and COL8A1 were also detected with suggestive evidence of association with advanced AMD. The novel variants identified in this study suggest that angiogenesis (VEGFA) and extracellular collagen matrix (FRK/COL10A1) pathways contribute to the development of advanced AMD.

Published
2011

40. Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration

Author

Yu, Y (Yi), Bhangale, TR, Fagerness, J, Ripke, S, Thorleifsson, G, Tan, PL, Souied, EH, Richardson, AJ, Merriam, JE, Buitendijk, Gabriëlle, Reynolds, R, Raychaudhuri, S, Chin, KA, Sobrin, L, Evangelou, E, Lee, PH, Lee, A Y, Leveziel, N, Zack, DJ, Campochiaro, B, Campochiaro, P, Smith, RT, Barile, GR, Guymer, RH, Hogg, R, Chakravarthy, U, Robman, LD, Gustafsson, O, Sigurdsson, H, Ortmann, W, Behrens, TW, Stefansson, K, Uitterlinden, André, Duijn, Cornelia, Vingerling, Hans, Klaver, Caroline, Allikmets, R, Brantley, MA, Baird, PN, Katsanis, N, Thorsteinsdottir, U, Ioannidis, JPA, Daly, MJ, Graham, RR, Seddon, JM, Yu, Y (Yi), Bhangale, TR, Fagerness, J, Ripke, S, Thorleifsson, G, Tan, PL, Souied, EH, Richardson, AJ, Merriam, JE, Buitendijk, Gabriëlle, Reynolds, R, Raychaudhuri, S, Chin, KA, Sobrin, L, Evangelou, E, Lee, PH, Lee, A Y, Leveziel, N, Zack, DJ, Campochiaro, B, Campochiaro, P, Smith, RT, Barile, GR, Guymer, RH, Hogg, R, Chakravarthy, U, Robman, LD, Gustafsson, O, Sigurdsson, H, Ortmann, W, Behrens, TW, Stefansson, K, Uitterlinden, André, Duijn, Cornelia, Vingerling, Hans, Klaver, Caroline, Allikmets, R, Brantley, MA, Baird, PN, Katsanis, N, Thorsteinsdottir, U, Ioannidis, JPA, Daly, MJ, Graham, RR, and Seddon, JM

Abstract

Despite significant progress in the identification of genetic loci for age-related macular degeneration (AMD), not all of the heritability has been explained. To identify variants which contribute to the remaining genetic susceptibility, we performed the largest meta-analysis of genome-wide association studies to date for advanced AMD. We imputed 6 036 699 single-nucleotide polymorphisms with the 1000 Genomes Project reference genotypes on 2594 cases and 4134 controls with follow-up replication of top signals in 5640 cases and 52 174 controls. We identified two new common susceptibility alleles, rs1999930 on 6q21-q22.3 near FRK/COL10A1 [odds ratio (OR) 0.87; P = 1.1 x 10(-8)] and rs4711751 on 6p12 near VEGFA (OR 1.15; P = 8.7 x 10(-9)). In addition to the two novel loci, 10 previously reported loci in ARMS2/HTRA1 (rs10490924), CFH (rs1061170, and rs1410996), CFB (rs641153), C3 (rs2230199), C2 (rs9332739), CFI (rs10033900), LIPC (rs10468017), TIMP3 (rs9621532) and CETP (rs3764261) were confirmed with genome-wide significant signals in this large study. Loci in the recently reported genes ABCA1 and COL8A1 were also detected with suggestive evidence of association with advanced AMD. The novel variants identified in this study suggest that angiogenesis (VEGFA) and extracellular collagen matrix (FRK/COL10A1) pathways contribute to the development of advanced AMD.

Published
2011

44. Clinical and laboratory factors associated with the severity of proliferative sickle cell retinopathy in patients with sickle cell hemoglobin C (SC) and homozygous sickle cell (SS) disease.

Author

Leveziel N, Bastuji-Garin S, Lalloum F, Querques G, Benlian P, Binaghi M, Coscas G, Soubrane G, Bachir D, Galactéros F, Souied EH, Leveziel, Nicolas, Bastuji-Garin, Sylvie, Lalloum, Franck, Querques, Giuseppe, Benlian, Pascale, Binaghi, Michel, Coscas, Gabriel, Soubrane, Gisèle, and Bachir, Dora

Published
2011
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45. Genotype-Phenotype Correlations for Exudative AMD Associated With Homozygous HTRA1 and CFH Genotypes

Author

Souied, Eh, Leveziel, N., Zerbib, J., Richard, F., Giuseppe Querques, Fremeaux Bacchi, V., Coscas, G., Soubrane, G., Benlian, P., Souied, Eh, Leveziel, N, Zerbib, J, Richard, F, Querques, Giuseppe, Fremeaux Bacchi, V, Coscas, G, Soubrane, G, and Benlian, P.

Subjects
age-related macular degeneration • genetics [Keywords]
Abstract

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

46. Choroidal Thickness in EMAP

Author

Blanco Garavito, R., Zerbib, J., Rostaqui, O., Giuseppe Querques, Massamba, N., Souied, Eh, Blanco Garavito, R, Zerbib, J, Rostaqui, O, Querques, Giuseppe, Massamba, N, and Souied, Eh

Subjects
choroid • imaging methods (CT, FA, ICG, MRI, OCT, RTA, SLO, ultrasound) • macula/fovea [Keywords]
Abstract

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

47. Integrated Confocal Scanning Laser Ophthalmoscopy Imaging And Corresponding Spectral Domain Optical Coherence Tomography Of Basal Laminar Drusen

Author

Querques, L., Giuseppe Querques, Guigui, B., Leveziel, N., francesco bandello, Souied, Eh, Querques, L, Querques, Giuseppe, Guigui, B, Leveziel, N, Bandello, Francesco, and Souied, Eh

Subjects
imaging/image analysis: clinical • retina • macula/fovea [Keywords]
Abstract

Purpose:To analyze the integrated confocal scanning laser ophthalmoscopy (cSLO) fundus and angiographic imaging and corresponding (eye-tracked) spectral domain optical coherence tomography (SD-OCT) features of basal laminar drusen (BLD). Methods:Twenty-one consecutive patients with BLD were submitted to cSLO fundus and angiographic imaging (infrared reflectance [IR], fundus autofluorescence [FAF], near-infrared autofluorescence [NIA], fluorescein angiographic [FA], and indocyanine green angiography [ICGA]) and eye-tracked SD-OCT. Results:A total of 42 eyes were included for analysis. BCVA ranged from 20/20 to 20/400. In 5/42 eyes, cSLO imaging and corresponding SD-OCT showed coincident vitelliform macular detachment, and in 9/42 eyes showed coincident geographic atrophy (GA). The typical BLD, intensely staining on early FA phase ("stars-in-the-sky" appearance in the fundus), appeared as "sawtooth" RPE elevation on SD-OCT. Some "atypical" BLD appeared, on early FA and ICGA frames, as hyper-fluoresecent lesions surrounded by faint hypo-fluoresecent halos. These lesions, that became intensely hyper-fluorescent in the late FA and ICGA phases, appeared, on SD-OCT, as small, confluent "dome-shaped" RPE elevations. Interestingly, some BLD were not visualized on SD-OCT scans, neither as "sawtooth" nor as "dome-shaped" RPE elevations. These lesions appeared as less intensely staining on both FA and ICGA, from the early until the late phase, yet still distinguishable when compared with a BLD-free region. Conclusions:The integrated cSLO fundus and angiographic imaging, and corresponding SD-OCT, allows highlighting different features of within BLD-containing regions and may give insights on the pathology of these lesions.

49. Oral DocosaHexaenoic Acid (DHA) In The Prevention of Exudative Age-Related Macular Degeneration: The NAT-2 Study

Author

Benlian, P., Delcourt, C., Giuseppe Querques, Zourdani, A., Nat, Study Group, Souied, Eh, Benlian, P, Delcourt, C, Querques, Giuseppe, Zourdani, A, Nat, 2 Study Group, and Souied, Eh

Subjects
age-related macular degeneration • nutritional factors • clinical (human) or epidemiologic studies: treatment/prevention assessment/controlled clinical trials [Keywords]
Abstract

Purpose:To evaluate the efficacy and safety of oral DHA in preventing the occurrence of choroidal neovascularization (CNV) in Age-related Macular Degeneration (AMD) over 3 years. Methods:The NAT-2 (Nutritional AMD Treatment-2) study is a double-masked, single-centre, randomized, parallel, comparative trial in patients (pts) with early AMD (drusen, no CNV) in the study eye and neovascular AMD in the fellow eye, receiving oral DHA (840 mg/d) or Placebo (PBO, olive oil). Primary Study End Point (SEP): time to occurrence of CNV in the study eye. Secondary efficacy SEP in study eye are: percentage of subjects developing CNV, changes in visual acuity (VA) and function, occurrence and progression of drusen and DHA in red-blood-cell membranes (RBCM) . Results:Among 263 Caucasian AMD pts (Full Set Analysis, 134:DHA and 129:PBO), 170 (65%) were women; 24.3% had AMD family history and 77% were never-smokers. They were aged 71y at diagnosis and 74y at entry; mean BMI was 26. At baseline, mean BCVA was 0.13 LogMAR in the study eye, cataract was found in 162 (62%), ≥5 large drusen in 258 (98%), and at least 1 soft drusen or pigmentary changes in 205 (78%) pts. At 3-y follow-up, at least 78% pts were compliant as assessed by a median +88% increase in serum DHA, in the DHA-allocated group vs -7% (PBO). In the study eye, mean time to CNV occurrence was similar in both groups: 19.5mo (DHA) vs 18.7mo (PBO) over 3y. Yearly rate of CNV occurrence progressed similarly in both groups from 9% (1-y) to 13% (3-y), with an overall 27% event rate. At 3y, BCVA in the study eye was similar in both groups: 0.29 (DHA) vs 0.24 (PBO) LogMAR, with 18% (DHA) and 14% (PBO) showing >15 letters decrease at 3y. Number, size and type of drusen progressed similarly in DHA and PBO groups. A strong median DHA increase in RBCM was observed from baseline in the DHA group: +60% (DHA) vs +4% (PBO), p

50. Genotype-Phenotype Correlations in Vitelliform Macular Dystrophy

Author

Giuseppe Querques, Zerbib, J., Santacroce, R., Martinelli, D., Querques, L., Delle Noci, N., Margaglione, M., Rozet, Jm, Soubrane, G., Souied, Eh, Querques, Giuseppe, Zerbib, J, Santacroce, R, Martinelli, D, Querques, L, Delle Noci, N, Margaglione, M, Rozet, Jm, Soubrane, G, and Souied, Eh

Subjects
retinal degenerations: hereditary • genetics • imaging methods (CT, FA, ICG, MRI, OCT, RTA, SLO, ultrasound) [Keywords]
Abstract

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.

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