Five-Year Trends in Multifocal Electroretinogram for Patients With Birdshot Chorioretinopathy

International audiencePURPOSE:The aim of this study is to investigate temporal trends in multifocal ERG (mfERG) parameters and analyze their relationships with anatomic and functional markers in patients with birdshot chorioretinopathy (BSCR).DESIGN:Prospective observational case series.METHODS:Sixteen BSCR patients were include and underwent 2 standardized follow-up (FU) visits within 5 years following a baseline examination, including mfERG, visual acuity (VA), visual field (VF), Lanthony desaturated panel D-15 test for color vision, quality of life (QoL), fluorescein and indocyanine green angiography, and optical coherence tomography (OCT).RESULTS:A significant trend toward a decrease in absolute N1 amplitude values was observed over the follow-up period (P < .001) while N1 implicit time remained unchanged. In contrast, P1 amplitude decreased (P < .001) and P1 implicit time increased (P < .001) over the same period. No significant temporal change was found for VA, color vision score, foveal threshold, mean deviation of VF, and QoL. After adjusting for time to FU, increasing N1 and P1 IT were both associated with decreasing values of logMAR, foveal threshold, and QoL and with increasing color vision score and mean deviation of VF. A significant relationship was observed between decreasing P1 amplitude values and increasing mean deviation of VF. Lower absolute values of N1 amplitude were associated with venous vasculitis, whereas lower P1 amplitude values correlated with alteration of the outer retina in OCT.CONCLUSIONS:Progressive deterioration in mfERG during a 5-year period is detected in BSCR, whereas classical functional test results were unchanged. This study suggests a better sensitivity of mfERG in monitoring the retinal function of BSCR patients

Multifocal electroretinography and spectral-domain optical coherence tomography in macula-off rhegmatogenous retinal detachment: A prospective cohort study

International audiencePurpose: To analyze the temporal trends in structural changes using spectral-domain optical coherence tomography and functional changes using multifocal electroretinogram after rhegmatogenous retinal detachment surgery. Methods: This prospective cohort study enrolled 69 patients with macula-off rhegmatogenous retinal detachment who underwent successful surgery. Early Treatment Diabetic Retinopathy Study visual acuity, multifocal electroretinogram evaluation of the central 5 degrees, and spectral-domain optical coherence tomography were recorded at 1, 3, 6, and 12 months (M) after surgery. The fellow eye served as the control group for multifocal electroretinogram parameters. Results: Between M1 and M12, visual acuity improved from 64 to 75 letters (P = 0.001) and implicit time of N1 decreased from 27.8 to 25.2 milliseconds (P = 0.001), whereas the other parameters did not vary significantly. Amplitude and implicit time values did not reach normal values at M12. Alterations of the ellipsoid zone and the external limiting membrane decreased over time (P = 0.001). P1 implicit time correlated independently with the alteration of the external limiting membrane (P = 0.007). Conclusion: Foveal wave amplitudes remain lower than normal values after successful surgery of rhegmatogenous retinal detachment, whereas anatomical improvement was found for outer retinal abnormalities and subretinal edema fluid. Retinal recovery improves N1 implicit time over time. Disruption of external limiting membrane seems to be predictive of increased P1 implicit time

MULTIFOCAL ELECTRORETINOGRAM IN BIRDSHOT CHORIORETINOPATHY

International audiencePURPOSE:To characterize multifocal electroretinogram parameters in patients with birdshot chorioretinopathy.METHODS:Twenty-eight patients with birdshot chorioretinopathy consecutively included from 2006 to 2011 were matched to 27 healthy subjects for age, axial length, and lens status. Multifocal electroretinogram was prospectively evaluated using the Vision Monitor system.RESULTS:Birdshot chorioretinopathy eyes differed significantly from healthy eyes by a decrease in mean root mean square values (-24.7%), P1 (-17.3%) and N2 (-27.5%) amplitude, and the P1/N1 ratio (-26.3%) as well as an increase in N1 (8.7%) and P1 (5.4%) implicit time (IT). An effect of the degree of eccentricity (5 zones) was found for root mean square (P < 0.001), P1 (P < 0.001) and N2 (P < 0.001) amplitude, and P1 IT (P < 0.001). Root mean square, the P1/N1 ratio, P1 and N2 amplitudes, P1 and N1 ITs were significantly correlated with visual acuity, mean defect of visual field, foveal threshold, and color vision score. The fluorescein angiographic score was significantly correlated to N1 and N2 amplitudes and N1 IT.CONCLUSION:Amplitudes and ITs of the multifocal electroretinogram parameters are impaired in patients with birdshot chorioretinopathy and are well correlated with other anatomical and functional tests. Periodic testing could guide the immunosuppressive treatment

A novel duplication of PRMD13 causes North Carolina macular dystrophy: overexpression of PRDM13 orthologue in drosophila eye reproduces the human phenotype

International audienceIn this study, we report a novel duplication causing North Carolina macular dystrophy (NCMD) identified applying whole genome sequencing performed on eight affected members of two presumed unrelated families mapping to the MCDR1 locus. In our families, the NCMD phenotype was associated with a 98.4 kb tandem duplication encompassing the entire CCNC and PRDM13 genes and a common DNase 1 hypersensitivity site. To study the impact of PRDM13 or CCNC dysregulation, we used the Drosophila eye development as a model. Knock-down and overexpression of CycC and CG13296, Drosophila orthologues of CCNC and PRDM13, respectively, were induced separately during eye development. In flies, eye development was not affected, while knocking down either CycC or CG13296 mutant models. Overexpression of CycC also had no effect. Strikingly, overexpression of CG13296 in Drosophila leads to a severe loss of the imaginal eye-antennal disc. This study demonstrated for the first time in an animal model that overexpression of PRDM13 alone causes a severe abnormal retinal development. It is noteworthy that mutations associated with this autosomal dominant foveal developmental disorder are frequently duplications always including an entire copy of PRDM13, or variants in one DNase 1 hypersensitivity site at this locus