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Novel clinical findings in autosomal recessive NR2E3-related retinal dystrophy
摘要： Purpose To evaluate the clinical phenotype of autosomal recessive NR2E3-related retinal dystrophy. Methods We retrospectively studied 11 patients carrying out at least 2 NR2E3 mutations; they had undergone comprehensive ophthalmological examination, fundus photography, optical coherence tomography, electrophysiological testing, and visual field at the Regional Reference Center for Hereditary Retinal Degenerations of the Eye Clinic in Florence. Results Five females and six males with a diagnosis of NR2E3-related retinal dystrophy were included in the study. All patients complained of nyctalopia. Visual acuity ranged from 0.00 logMAR to hand motion. Two patients presented bull’s eye maculopathy, and one of these was characterized by a triple hyper-autofluorescent ring at the fundus autofluorescence examination. Three patients showed small yellowish dots and spots at the mid-periphery. One patient was characterized by widespread subretinal drusenoid deposits (SDD) at the posterior pole. Four patients showed vitreous abnormalities. Optical coherence tomography (OCT) examinations detected variable degrees of abnormal retinal lamination and schitic changes. Seven patients were compound heterozygous and four were homozygous for mutations in NR2E3. Conclusions Our study confirmed high variable phenotype in autosomal recessive NR2E3-related retinal dystrophy. Bull’s eye maculopathy, subretinal drusenoid deposits, and foveal hypoplasia represent novel clinical findings in NR2E3-related retinal dystrophy. Macular involvement was detectable in all the patients, and the abnormal foveal avascular zone (FAZ) supports the role of NR2E3 in retinal development.
关键词： Retinal dystrophy,Foveal hypoplasia,Retinitis pigmentosa,Subretinal drusenoid deposits,Autosomal recessive disease,Goldmann-Favre,NR2E3
更新于2025-09-23 15:23:52
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Characterization of Rod Function Phenotypes Across a Range of Age-Related Macular Degeneration Severities and Subretinal Drusenoid Deposits
摘要： PURPOSE. To examine spatial changes in rod-mediated function in relationship to local structural changes across the central retina in eyes with a spectrum of age-related macular degeneration (AMD) disease severity. METHODS. Participants were categorized into five AMD severity groups based on fundus features. Scotopic thresholds were measured at 14 loci spanning 6° to 18° along the vertical meridian from one eye of each of 42 participants (mean = 71.7 ± 9.9 years). Following a 30% bleach, dark adaptation was measured at eight loci (4° to 12°). Rod intercept time (RIT) was defined from the time to detect a ?3.1 log cd/m2 stimulus. RITslope was defined from the linear fit of RIT with decreasing retinal eccentricity. The presence of subretinal drusenoid deposits (SDD), ellipsoid (EZ) band disruption, and drusen at the test loci was evaluated using optical coherence tomography. RESULTS. Scotopic thresholds indicated greater rod function loss in the macula, which correlated with increasing AMD group severity. RITslope, which captures the spatial change in the rate of dark adaptation, increased with AMD severity (P < 0.0001). Three rod function phenotypes emerged: RF1, normal rod function; RF2, normal scotopic thresholds but slowed dark adaptation; and RF3, elevated scotopic thresholds with slowed dark adaptation. Dark adaptation was slowed at all loci with SDD or EZ band disruption, and at 32% of loci with no local structural changes. CONCLUSIONS. Three rod function phenotypes were defined from combined measurement of scotopic threshold and dark adaptation. Spatial changes in dark adaptation across the macula were captured with RITslope, which may be a useful outcome measure for functional studies of AMD.
关键词： age-related macular degeneration,RIT,SDD,scotopic thresholds,dark adaptation,rod intercept time,subretinal drusenoid deposits,AMD
更新于2025-09-23 15:22:29
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Changes in Retinal Layer Thickness in the?Contralateral Eye of Patients with Unilateral Neovascular Age-Related Macular Degeneration
摘要： To evaluate the thickness of the outer retinal layers and its relationship with visual function in fellow eyes of participants with unilateral neovascular age-related macular degeneration (AMD). Design: Longitudinal study. Participants: We enrolled 105 subjects with unilateral neovascular AMD from 3 clinical centers in Europe. Methods: The fellow eye, without advanced AMD, was selected for the study. Subjects were followed up with visits occurring every 6 months for 2 years. Spectral domain optical coherence tomography volume scans were collected at 3 clinical sites, in Belfast, Northern Ireland; Coimbra, Portugal; and Milan, Italy. Detailed manual segmentation of outer retinal layers was performed using the custom-designed and validated grading software 3D OCTOR. Thickness measurements for neurosensory retina, photoreceptor layer (PRL) outer segments, retinal pigment epithelium plus drusen (RPEtdrusen) complex, and choroidal layers from each sector of the standard macular grid were obtained. Measures of vison were distance visual acuity, near visual acuity, Smith-Kettlewell Institute low-luminance acuity score, and reading speed. Subjects were grouped based on the presence or absence of subretinal drusenoid deposits (SDDs) for further analysis. Main Outcome Measures: Change in thickness of retinal layers and change in measures of vision. Results: In all, 85 eyes were included in the analysis. The average duration of follow-up was 20.5 (cid:2) 5.8 months. By the ?nal visit, the RPEtdrusen complex was signi?cantly thinner when compared with baseline (29.7 mm vs. 34.09 mm; P ? 0.03). Low-luminance de?cit was signi?cantly worse at the ?nal visit (P < 0.001) and correlated with PRL outer segment thickness (r ? 0.33; P ?0.02). The RPEtdrusen complex was signi?cantly thicker in eyes with SDDs compared with that in those without SDDs (30.67 mm vs. 28.64 mm; P ? 0.02). PRL outer segments became signi?cantly thinner over time in eyes with SDDs compared with those in eyes without SDDs. Conclusions: The RPEtdrusen complex layer becomes thinner over time in fellow eyes of subjects with unilateral neovascular AMD. The rate of PRL outer segment thinning was higher in eyes with SDDs than in eyes without SDDs. These ?ndings are preliminary steps in the identi?cation of early biomarkers for detecting and monitoring the progression of AMD. Ophthalmology Retina 2018;-:1e10 a 2018 Published by Elsevier Inc. on behalf of the American Academy of Ophthalmology
关键词： spectral domain optical coherence tomography,visual function,retinal layer thickness,subretinal drusenoid deposits,age-related macular degeneration
更新于2025-09-23 15:21:01
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Macular Atrophy Development and Subretinal Drusenoid Deposits in Anti-Vascular Endothelial Growth Factor Treated Age-Related Macular Degeneration
摘要： PURPOSE. To explore the association between presence of subretinal drusenoid deposits (SDD) at baseline in eyes with neovascular age-related macular degeneration (nAMD) with the development of macular atrophy (MA) during anti-vascular endothelial growth factor (VEGF) therapy. METHODS. There were 74 eyes without pre-existing MA receiving anti-VEGF therapy for nAMD for 2 years or longer analyzed. At least two image modalities that included spectral-domain optical coherence tomography, near-infrared re?ectance, ?uorescein angiography, and color fundus photos were used to assess for SDD presence, phenotype (dot and ribbon), and location, neovascularization type, and MA. Logistic regression models using generalized estimating equations assessed the association between SDD and the development of MA adjusting for age, neovascularization type, and choroidal thickness. RESULTS. SDD were present in 46 eyes (63%) at baseline. MA developed in 38 eyes (51%) during the mean of 4.7 6 1.2 years of follow-up. Compared with eyes without SDD, those with SDD at baseline were 3.0 times (95% con?dence interval [CI] 1.1–8.5, P ? 0.0343) more likely to develop MA. Eyes with SDD present in the inferior macula and inferior extramacular ?elds at baseline were 3.0 times and 6.5 times more likely to develop MA at follow-up than eyes without SDD in these locations (95% CI 1.0–8.9, P ? 0.0461 and 95% CI 1.3–32.4, P ? 0.0218, respectively). MA development was not associated with a speci?c SDD phenotype. CONCLUSIONS. MA frequently developed in eyes during anti-VEGF treatment. SDD were independently associated with MA development. The extension of SDD into the inferior fundus, particularly in the inferior extramacular ?eld, conferred higher odds of subsequent MA development.
关键词： reticular pseudodrusen,anti-VEGF,neovascular age-related macular degeneration,geographic atrophy,subretinal drusenoid deposits
更新于2025-09-10 09:29:36