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1.  Evidence of association of APOE with age-related macular degeneration - a pooled analysis of 15 studies 
Human mutation  2011;32(12):1407-1416.
Age-related macular degeneration (AMD) is the most common cause of incurable visual impairment in high-income countries. Previous studies report inconsistent associations between AMD and apolipoprotein E (APOE), a lipid transport protein involved in low-density cholesterol modulation. Potential interaction between APOE and sex, and smoking status, has been reported. We present a pooled analysis (n=21,160) demonstrating associations between late AMD and APOε4 (OR=0.72 per haplotype; CI: 0.65–0.74; P=4.41×10−11) and APOε2 (OR=1.83 for homozygote carriers; CI: 1.04–3.23; P=0.04), following adjustment for age-group and sex within each study and smoking status. No evidence of interaction between APOE and sex or smoking was found. Ever smokers had significant increased risk relative to never smokers for both neovascular (OR=1.54; CI: 1.38–1.72; P=2.8×10−15) and atrophic (OR=1.38; CI: 1.18–1.61; P=3.37×10−5) AMD but not early AMD (OR=0.94; CI: 0.86–1.03; P=0.16), implicating smoking as a major contributing factor to disease progression from early signs to the visually disabling late forms. Extended haplotype analysis incorporating rs405509 did not identify additional risks beyondε2 and ε4 haplotypes. Our expanded analysis substantially improves our understanding of the association between the APOE locus and AMD. It further provides evidence supporting the role of cholesterol modulation, and low-density cholesterol specifically, in AMD disease etiology.
doi:10.1002/humu.21577
PMCID: PMC3217135  PMID: 21882290
age-related macular degeneration; AMD; apolipoprotein E; APOE; case-control association study
2.  DHA supplementation for late onset Stargardt disease: NAT-3 study 
Background:
We analyzed the effects of a docosahexaenoic acid (DHA) supplementation in patients affected with late onset Stargardt disease (STGD).
Methods:
DHA (840 mg/day) was given to 20 STGD patients for six months. A complete ophthalmologic examination, including best-corrected visual acuity (BCVA) and multifocal electroretinogram (mfERG), was performed at inclusion day 0 (D0) and at month 6 (M6).
Results:
Overall, no statistical differences have been observed at M6 vs D0 as regards BCVA and mfERG (P > 0.05). Mild Improvement of BCVA and improvement of mfERG was noted in seven/40 eyes of four/20 patients. In the first patient, the peak of the a wave increased from 66 nV/deg2 to 75.4 nV/deg2 in the right eye (RE) and 24.5 nV/deg2 to 49.1 nV/deg2 in the left eye (LE). The peak of the b wave improved from 122 nV/deg2 to 157 nV/deg2 in the RE, and 102 nV/deg2 to 149 nV/deg2 in the LE. In the second patient peaks of the a and b waves respectively increased from 11.8 nV/deg2 to 72.1 nV/deg2 and 53 nV/deg2 to 185 nV/deg2 in the RE. In the third patient the peak of the a wave increased from 37 nV/deg2 to 43 nV/deg2 in the RE, and from 31 nV/deg2 to 45 nV/deg2 in the LE; the peak of the b wave improved from 70 nV/deg2 to 89 nV/deg2 in the RE, and from 101 nV/deg2 to 108 nV/deg2 in the LE. In the fourth patient, the peak of the a wave increased from 39 nV/deg2 to 42 nV/deg2 in the RE, and from 40 nV/deg2 to 43 nV/deg2 in the LE; the peak of the b wave improved from 86 nV/deg2 to 94 nV/deg2 in the RE, and from 87 nV/deg2 to 107 nV/deg2 in the LE.
Conclusion:
DHA seems to influence some functional parameters in patients affected with STGD. However, no short-term benefit should be expected from DHA supplementation.
PMCID: PMC2909886  PMID: 20668719
docosahexaenoic acid (DHA); multifocal electroretinogram; omega-3; polyunsaturated fatty acid; retinal dystrophy; Stargardt disease
3.  A new approach for visualisation of dye leakage in fluorescein angiography 
Introduction:
Fluorescein angiography (FA) is the more common investigation performed for macular diseases.1 Frozen FA pictures are obtained but direct visualisation of the kinetics of FA is possible only once, by the investigator. The kinetics of FA examination is imagined from static FA pictures based on our experience.23 We evaluated a new software that re‐create automatic pseudo‐movie from static pictures, in order to share the visualisation of dye leakage.
Methods:
EyeToolkit software (EDC Lamy EyeToolkit software, EDC LAMY, Carvin, France) performs an automatic and rapid overlay (0.5 to 3 seconds) from the different angiographic frames. Five images from the same examination, from early to late phase, are required to generate a movie. The resulting movies could be seen either with the EyeToolkit software or be exported to video format. We submitted a minimum of six images issued from printed photographs or any digital instrument (Topcon retinal camera, TRC‐50, Topcon, Tokyo, Japan; Heidelberg Retina Angiograph, HRA 2, Heidelberg Engineering, Heidelberg, Germany), to the EyeToolkit software: sequences of fluorescein angiograms of patients harbouring various patterns of exudative age‐related macular degeneration (AMD), with or without treatment, were selected in order to visualise active leakage of dye and to differentiate it from staining. In addition, we submitted to the EyeToolkit software images issued from one single FA examination (early phase to 10′) in case of central serous chorioretinopathy (CSC), in order to see the kinetics of the leakage and to visualise leakage of dye from active areas of CSC.
Comment:
We evaluated two kinds of leakage: chorio‐retinal leakage from choroidal new vessels (CNVs) due to AMD, and retinal leakage from active areas of CSC. In exudative AMD patients, the rapid overlay (<10”) applied in a movie mode obviously demonstrated the progressive enlargement of the hyperfluorescence, materialising the leakage of fluorescein from CNVs. The FA movies generated with EyeToolkit permitted to clearly see the active leakage from a newly diagnosed classic CNV (Video 1), and from a newly diagnosed minimally classic CNV (Video 2). Moreover, the FA movies generated with EyeToolkit permitted to easily detect the minimal leakage from a still active classic choroidal neovascularisation previously treated by photodynamic therapy (PDT) (Video 3), and to visualise the filling of the vascularised pigment epithelium detachment from an occult choroidal neovascularisation previously treated by PDT (Video 4). In CSC, the FA movies generated with EyeToolkit permitted to see the kinetics of the classic smokestack‐type leakage (Video 5) and to easily visualise leakage of dye from active areas of CSC (Video 6). EyeToolkit software is a new automatic and efficient tool for a rapid overlay of images, obtaining an angiographic movie from any image. It leads to easy visualisation of leakage from CNVs and from active areas of CSC; thus, owing to the easy differentiation of active leakage from staining, EyeToolkit software would seem particularly helpful for the decision of treatment and re‐treatment. Easy visibility of the kinetics of the dye in angiography, in a movie mode, also represents a useful approach for teaching. Based on this preliminary analysis, this software can be considered for (1) recreating pseudo‐kinetics of dye in retinal angiography, (2) easy sharing of retinal angiograhy; voice comments can be included within the file, and (3) teaching and e‐learning. The comparative evaluation of the generated movies versus classic angiographic pictures must validate its use for diagnosis and indications of treatment.
See online video reports
To view the full report and accompanying video please go to: http://bjo.bmj.com/cgi/content/full/91/12/1685/DC1
All videos from the BJO video report collection are available from: http://bjo.bmj.com/video/collection.dtl
doi:10.1136/bjo.2007.129155
PMCID: PMC2095509  PMID: 18024812

Results 1-3 (3)