Long-term rearrangement of retinal structures in a novel mutation of X-linked retinoschisis

The aim of the present study was to report a novel mutation in the retinoschisin 1 (RS1) gene in a Caucasian family affected by X-linked juvenile retinoschisis (XLRS) and to describe the long-term modification of retinal structure. Two brothers with an early onset maculopathy were diagnosed with XLRS. Fundus photography, fluorescein angiography, spectral domain optical coherence tomography and electroretinogram analyses were performed. Their sister was also examined. All subjects were screened for mutations in the RS1 gene. XLRS patients demonstrated a marked reduction of best-corrected visual acuity. SD-OCT scans reported a cystic degeneration primarily involving the inner nuclear layer, though some cysts were detected in the outer plexiform layer and in the ganglion cell layer. During the ten-year follow-up, a progressive retinal thickening and coalescence of the cysts was observed. Genetic testing revealed a novel mutation (p.Ile212Asn) in the RS1 gene in both XLRS patients, whereas their sister was not a genetic carrier. Several mutations of the RS1 gene were recognized to be responsible for XLRS. Although the correspondence between genotype and phenotype is still under debate, is reasonable that siblings affected by XLRS could share other genetic and/or epigenetic factors capable to influence clinical course of the disease

Automated detection of Diabetic Retinopathy in Three European Populations

Objective: Currently 1/12 of the world’s population has diabetes mellitus (DM), many are or will be screened by having retinal images taken. This current study aims to compare the DAPHNE software’s ability to detect DR in three different European populations compared to human grading carried out at the Moorfields Eye Hospital Reading Centre (MEHRC). Participants: Retinal images were taken from participants of the HAPIEE study (Lithuania, n=1014), the PAMDI study (Italy, n=882) and the MARS study (Germany, n=909). Methods: All anonymized images were graded by human graders at MEHRC for the presence of DR. Independently, and without any knowledge of the human grader’s results, the DAPHNE software analysed the images and divided the participants into DR and no-DR groups. Main outcome measures: The primary outcomes were sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) of the DAPHNE software with regards to the identification of DR or no-DR on retinal images as compared to the human grader as reference standard. Results: A total of 2805 participants were enrolled from the three study sites. The sensitivity of the DAPHNE software was above 93% in all three studies specificity was above 80%, the PPV was above 28% and the NPV was not below 98.8% in any of the studies. The DAPHNE software did not miss any vision-threatening DR. The areas under the curve (AUC) for all three studies were above 0.96. DAPHNE reduced manual human workload by 70% but had a total false positive rate of 63%. Conclusions: The DAPHNE software showed to be reliable to detect DR on three different European populations, using three different imaging settings. Further testing is required to see scalability, performance on live DR screening systems and on camera settings different to these studies

Risk Factors and Age-Related Macular Degeneration in a Mediterranean-Basin Population: The PAMDI (Prevalence of Age-Related Macular Degeneration in Italy) Study--Report 2

Aim: To investigate the association of diet and other modifiable risk factors with the prevalence of age-related macular degeneration (ARMD) in rural and urban communities of a Mediterranean population in the northeast of Italy. Methods: A cross-sectional population-based study was conducted among subjects aged over 60 years. A food frequency questionnaire (FFQ) was used to assess the consumption of different food categories, i.e., protective (P), risky (R), lutein-rich (L) and neutral (N). Smoking habit and alcohol intake were also examined. Macular pigment was measured by Raman spectroscopy. Results: P food intake reduced the risk of large drusen (ARM2; OR 0.93; 95% CI 0.89-0.96) within the rural community. In this sub-group, R foods resulted in a slight association with large drusen, though the R/P food ratio was highly correlated with ARM2 (OR 1.21; 95% CI 1.12-1.31). Raman measures showed an age-dependent decrease but did not correlate with lutein intake. Smoking habit showed a positive association with ARM2 among women (OR 2.40; 95% CI 1.54-3.75), whereas alcohol consumption resulted in protective odds (OR 0.72; 95% CI 0.60-0.86). Conclusion: FFQ analysis confirmed the role of P and R foods and the benefit of a Mediterranean diet in ARMD. Moderate alcohol consumption showed a beneficial effect, whereas the deleterious role of a smoking habit was more evident in females

Risk factors and Age-Related Macular Degeneration in a Mediterranean basin population, the PAMDI (Prevalence of ARMD in Italy) Study: Report 2.

Aim: To investigate the association of diet and other modifiable risk factors with the prevalence of Age Related Macular Degeneration (ARMD) within rural and urban communities of a Mediterranean population in the North-East of Italy. Methods: A cross-sectional population-based study was conducted among subjects over 60 years. A Frequency Food Questionnaire (FFQ) collected the assumption of different food categories: Protective (P), Risky (R), Lutein-rich (L) and Neutral (N). Smoking habits and alcohol intake were also examined. Macular pigment was measured by Raman spectroscopy. Results: P food intake reduced the risk of large drusen (ARM2) (OR=0.93, 95%CI: 0.89-0.96) within the rural community. In this subgroup, R foods resulted in a slight association with large drusen, though the R/P food ratio was highly correlated with ARM2 (OR=1.21, 95%CI: 1.12-1.31). Raman measures showed age-dependent decrease but did not correlate with lutein intake. Smoking habits showed a positive association with ARM2 among women (OR=2.40, 95%CI: 1.54-3.75) whereas alcohol consumption resulted in protective odds (OR=0.72, 95%CI: 0.60-0.86). Conclusion: FFQ analysis confirmed the role of P and R foods and the benefit of the Mediterranean diet on ARMD. Moderate alcohol consumption showed a beneficial effect, whereas the deleterious role of smoking habit was more evident in females

Controlled drainage of subretinal fluid during scleral buckling surgery for rhegmatogenous retinal detachment: the pigment stream sign

Purpose To describe the macroscopic characteristics of the subretinal fluid (SRF) and its spilling modality during evacuative puncture in scleral buckling (SB) surgery for rhegmatogenous retinal detachment. Methods We retrospective reviewed all the SB surgeries performed over a period of 26 months at the University Eye Clinic of Trieste, Italy. We selected a cohort of 102 patients in which SRF drainage by means of evacuative puncture was performed. A highdefinition video was recorded during the whole duration of the procedures, and the macroscopic characteristics of the SRF leakage were assessed. Results Pigmented dark-brownish deposits spilling in the fluid outcoming from the evacuative puncture was observed during the surgeries. In all cases, this macroscopic feature was detected during the late phases of the drainage. Moreover, indirect ophthalmoscopic evaluation showed the almost complete SRF drainage and a flattened retina at that moment. Conclusions The pigment stream sign, easily detectable by the surgeon, allows to understand, during the evacuative puncture, when the SRF has been drained almost completely and that the drainage procedure is therefore close to the end

Combined therapy with bevacizumab and photodynamic therapy for myopic choroidal neovascularization: A one-year follow-up controlled study

7noAIM: To evaluate the efficacy and safety of a combined treatment for myopic choroidal neovascularization (CNV) using photodynamic therapy (PDT) and intravitreal bevacizumab and to compare it with intravitreal bevacizumab monotherapy. METHODS: Thirty-four eyes with angiographic evidence of myopic CNV were randomly divided into two groups: 17 were treated with one intravitreal bevacizumab injection (1.25 mg) and low-fluence-rate PDT within seven days of the injection (Group A). The other 17 received monotherapy with bevacizumab injections (Group B). Clinical evidence of complications, best corrected visual acuity (BCVA) and fluorescein leakage were evaluated. BCVA and optical coherence tomography (OCT) were evaluated monthly. The timepoints follow-up was established at 6 and 12mo. All patients were retreated following a PRN protocol. RESULTS: A total of 34 eyes of 34 patients (26 women and 8 men) with a mean age of 62.35 years were included. In Group A (17 eyes) the mean BCVA increased from 0.55±0.13 logMAR before the treatment to 0.40±0.09 logMAR at the 12mo follow-up (P<0.01). In Group B (17 eyes) the mean BCVA increased from 0.60±0.11 logMAR before the treatment to 0.55±0.12 logMAR at the 12mo follow-up (P<0.01). There was no statistically significant difference between the two groups in terms of LogMar visual acuity. In Group A the mean number of combined treatments was 1.8±0.11 per patient; in Group B the mean number of intravitreal bevacizumab injections was 3.1±0.08 per patient. The number of treatments was significantly fewer in Group A (P<0.01). No local or systemic side effects occurred among any of the patients treated in this study. CONCLUSION: The combination of anti-angiogenic injections and PDT appears to be a safe and effective option for myopic CNV treatment and allows for a significant reduction of intravitreal injections. KEYWORDS: bevacizumab; combined therapy; myopia; neovascularization; photodynamic therapynoneopenSaviano, Sandro; Piermarocchi, Rita; Leon, Pia E; Mangogna, Alessandro; Zanei, Andrea; Sc, Fabiano Cavarzeran; Tognetto, DanieleSaviano, Sandro; Piermarocchi, Rita; Leon, Pia E; Mangogna, Alessandro; Zanei, Andrea; Sc, Fabiano Cavarzeran; Tognetto, Daniel

Association of lipid-lowering drugs and antidiabetic drugs with age-related macular degeneration: a meta-analysis in Europeans

International audienceBackground/aims To investigate the association of commonly used systemic medications with prevalent age-related macular degeneration (AMD) in the general population. Methods We included 38 694 adults from 14 population-based and hospital-based studies from the European Eye Epidemiology consortium. We examined associations between the use of systemic medications and any prevalent AMD as well as any late AMD using multivariable logistic regression modelling per study and pooled results using random effects meta-analysis. Results Between studies, mean age ranged from 61.5±7.1 to 82.6±3.8 years and prevalence ranged from 12.1% to 64.5% and from 0.5% to 35.5% for any and late AMD, respectively. In the meta-analysis of fully adjusted multivariable models, lipid-lowering drugs (LLD) and antidiabetic drugs were associated with lower prevalent any AMD (OR 0.85, 95% CI=0.79 to 0.91 and OR 0.78, 95% CI=0.66 to 0.91). We found no association with late AMD or with any other medication. Conclusion Our study indicates a potential beneficial effect of LLD and antidiabetic drug use on prevalence of AMD across multiple European cohorts. Our findings support the importance of metabolic processes in the multifactorial aetiology of AMD. HOW THIS STUDY MIGHT AFFECT RESEARCH, PRACTICE OR POLICY ⇒ These findings have implications for public health messages, underline the link of AMD with cardiovascular comorbidities and may provide potential future therapeutic targets