Analysis of imaging biomarkers and retinal nerve fiber layer thickness in RPGR-associated retinitis pigmentosa.
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ABSTRACT: Purpose
To investigate multimodal retinal imaging characteristics including the retinal nerve fiber layer (RNFL) thickness in patients with RPGR-associated retinitis pigmentosa (RP).Methods
This cross-sectional case-control study included 17 consecutive patients (median age, 21 years) with RPGR-associated RP who underwent retinal imaging including optical coherence tomography (OCT), short-wavelength fundus autofluorescence (AF) imaging, and RNFL scans centered on the optic disc. RNFL thickness was manually segmented and compared to clinical and imaging parameters including the transfoveal ellipsoid zone (EZ) width, the horizontal diameter of the macular hyperautofluorescent ring. RNFL thickness was compared to 17 age- and sex-matched controls.Results
In patients with RPGR-associated RP, the EZ width (R2 = 0.65), the central hyperautofluorescent ring on AF images (R2 = 0.72), and visual acuity (R2 = 0.68) were negatively correlated with age. In comparison to controls, a significantly (p < 0.0001) increased global RNFL thickness was identified in RPGR-associated RP, which was, however, less pronounced in progressed disease as indicated by the EZ width or the diameter of the central hyperautofluorescent ring.Conclusions
This study describes retinal characteristics in patients with RPGR-associated RP including a pronounced peripapillary RNFL thickness compared to healthy controls. These results contribute to the knowledge about imaging biomarkers in RP, which might be of interest for therapeutic approaches such as gene replacement therapies.
SUBMITTER: Birtel TH
PROVIDER: S-EPMC8589744 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:PurposeTo investigate longitudinal changes in peripapillary retinal nerve fiber layer (RNFL) thickness in patients with retinitis pigmentosa (RP).MethodsWe re-examined 103 RP patients whose RNFL thickness was previously examined and reported. RNFL thickness was measured using Stratus optical coherence tomography and was compared with the previous measurements. The results were also compared with that of previously reported normal subjects. Association between the decrease rate and visual acuity, and visual field was also investigated.ResultsThe mean follow-up period was 56.9 months. After excluding the patients in whom RNFL images were of poor quality, 88 patients were eventually analyzed. The average RNFL thickness decreased from 105.8 to 98.2 μm during the period, with the average rate of decrease being 1.6 μm/year. The decrease in RNFL was more evident in superior and inferior sectors. Cross-sectional linear regression analysis also revealed an age-dependent decrease in RNFL, with the slower rate of decrease being 0.94 μm/year. The decrease in RNFL thickness was significantly faster than that reported in normal subjects. The decrease rate was not associated with visual functions.ConclusionAge-dependent RNFL thinning occurs at a faster rate in RP patients as compared with that in normal subjects. The result supports the notion that pathologic changes involve inner retina as well as outer retina in eyes with RP. Considering the discrepancy in the rate of RNFL thinning estimated from trend analysis and longitudinal measurement, care should be taken when interpreting the result of cross-sectional analysis.
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Project description:PURPOSE:To investigate the role of sex on retinal nerve fiber layer (RNFL) thickness at 768 circumpapillary locations based on OCT findings. DESIGN:Population-based cross-sectional study. PARTICIPANTS:We investigated 5646 eyes of 5646 healthy participants from the Leipzig Research Centre for Civilization Diseases (LIFE)-Adult Study of a predominantly white population. METHODS:All participants underwent standardized systemic assessments and ocular imaging. Circumpapillary RNFL (cRNFL) thickness was measured at 768 points equidistant from the optic nerve head using spectral-domain OCT (Spectralis; Heidelberg Engineering, Heidelberg, Germany). To control ocular magnification effects, the true scanning radius was estimated by scanning focus. Student t test was used to evaluate sex differences in cRNFL thickness globally and at each of the 768 locations. Multivariable linear regression and analysis of variance were used to evaluate individual contributions of various factors to cRNFL thickness variance. MAIN OUTCOME MEASURES:Difference in cRNFL thickness between males and females. RESULTS:Our population consisted of 54.8% females. The global cRNFL thickness was 1 ?m thicker in females (P < 0.001). However, detailed analysis at each of the 768 locations revealed substantial location specificity of the sex effects, with RNFL thickness difference ranging from -9.98 to +8.00 ?m. Females showed significantly thicker RNFLs in the temporal, superotemporal, nasal, inferonasal, and inferotemporal regions (43.6% of 768 locations), whereas males showed significantly thicker RNFLs in the superior region (13.2%). The results were similar after adjusting for age, body height, and scanning radius. The superotemporal and inferotemporal RNFL peaks shifted temporally in females by 2.4° and 1.9°, respectively. On regions with significant sex effects, sex explained more RNFL thickness variance than age, whereas the major peak locations and interpeak angle explained most of the RNFL thickness variance unexplained by sex. CONCLUSIONS:Substantial sex effects on cRNFL thickness were found at 56.8% of all 768 circumpapillary locations, with specific patterns for different sectors. Over large regions, sex was at least as important in explaining the cRNFL thickness variance as was age, which is well established to have a substantial impact on cRNFL thickness. Including sex in the cRNFL thickness norm could therefore improve glaucoma diagnosis and monitoring.
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Project description:Optical coherence tomography (OCT) manufacturers graphically present circumpapillary retinal nerve fiber layer thickness (cpRNFLT) together with normative limits to support clinicians in diagnosing ophthalmic diseases. The impact of age on cpRNFLT is typically implemented by linear models. cpRNFLT is strongly location-specific, whereas previously published norms are typically restricted to coarse sectors and based on small populations. Furthermore, OCT devices neglect impacts of lens or eye size on the diameter of the cpRNFLT scan circle so that the diameter substantially varies over different eyes. We investigate the impact of age and scan diameter reported by Spectralis spectral-domain OCT on cpRNFLT in 5646 subjects with healthy eyes. We provide cpRNFLT by age and diameter at 768 angular locations. Age/diameter were significantly related to cpRNFLT on 89%/92% of the circle, respectively (pointwise linear regression), and to shifts in cpRNFLT peak locations. For subjects from age 42.1 onward but not below, increasing age significantly decreased scan diameter (r=-0.28, p<0.001), which suggests that pathological cpRNFLT thinning over time may be underestimated in elderly compared to younger subjects, as scan diameter decrease correlated with cpRNFLT increase. Our detailed numerical results may help to generate various correction models to improve diagnosing and monitoring optic neuropathies.
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Project description:PurposeThe onset and progression of optic neuropathies like glaucoma often occurs asymmetrically between the two eyes of a patient. Interocular circumpapillary retinal nerve fiber layer thickness (cpRNFLT) differences could detect disease earlier. To apply such differences diagnostically, detailed location specific norms are necessary.MethodsSpectral-domain optical coherence tomography cpRNFLT circle scans from the population-based Leipzig Research Centre for Civilization Diseases-Adult study were selected. At each of the 768 radial scanning locations, normative interocular cpRNFLT difference distributions were calculated based on age and interocular radius difference.ResultsA total of 8966 cpRNFLT scans of healthy eyes (4483 patients; 55% female; age range, 20-79 years) were selected. Global cpRNFLT average was 1.53 µm thicker in right eyes (P < 2.2 × 10-16). On 96% of the 768 locations, left minus right eye differences were significant (P < 0.05), varying between +11.6 µm (superonasal location) and -11.8 µm (nasal location). Increased age and difference in interocular scanning radii were associated with an increased mean and variance of interocular cpRNFLT difference at most retinal locations, apart from the area temporal to the inferior RNF bundle where cpRNFLT becomes more similar between eyes with age.ConclusionsWe provide pointwise normative distributions of interocular cpRNFLT differences at an unprecedentedly high spatial resolution of 768 A-scans and reveal considerable location specific asymmetries as well as their associations with age and scanning radius differences between eyes.Translational relevanceTo facilitate clinical application, we implement these age- and radius-specific norms across all 768 locations in an open-source software to generate patient-specific normative color plots.
| S-EPMC7442876 | biostudies-literature
Project description:The paper presents a comparative study of the pulsatile attenuation amplitude (PAA) within the optic nerve head (ONH) at four different areas calculated from retinal video sequences and its relevance to the retinal nerve fiber layer thickness (RNFL) changes in normal subjects and patients with different stages of glaucoma. The proposed methodology utilizes processing of retinal video sequences acquired by a novel video ophthalmoscope. The PAA parameter measures the amplitude of heartbeat-modulated light attenuation in retinal tissue. Correlation analysis between PAA and RNFL is performed in vessel-free locations of the peripapillary region with the proposed evaluating patterns: 360° circular area, temporal semi-circle, nasal semi-circle. For comparison, the full ONH area is also included. Various positions and sizes of evaluating patterns in peripapillary region were tested which resulted in different outputs of correlation analysis. The results show significant correlation between PAA and RNFL thickness calculated in proposed areas. The highest correlation coefficient Rtemp = 0.557 (p<0.001) reflects the highest PAA-RNFL correspondence in the temporal semi-circular area, compared to the lowest value in the nasal semi-circular area (Rnasal = 0.332, p<0.001). Furthermore, the results indicate the most relevant approach to calculate PAA from the acquired video sequences is using a thin annulus near the ONH center. Finally, the paper shows the proposed photoplethysmographic principle based on innovative video ophthalmoscope can be used to analyze changes in retinal perfusion in peripapillary area and can be potentially used to assess progression of the RNFL deterioration.
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Project description:BackgroundParkinson disease (PD) is a neurodegenerative process that leads to a selective loss of dopaminergic neurons, mainly in the basal ganglia of the brain. Numerous studies have analyzed the ability of optical coherence tomography (OCT) to detect retinal nerve fiber layer (RNFL) thickness abnormalities and changes in PD, but the results have not always been consistent. Therefore, we carried out a meta-analysis to evaluate the RNFL thickness measured with OCT in PD.Methods and findingsCase-control studies were selected through an electronic search of the Cochrane Controlled Trials Register, PUBMED and EMBASE. For the continuous outcomes, we calculated the weighted mean difference (WMD) and 95% confidence interval (CI). The statistical analysis was performed by RevMan 5.0 software. Thirteen case-control studies were included in the present meta-analysis, containing a total of 644 eyes in PD patients and 604 eyes in healthy controls. The results of our study showed that there was a significant reduction in average RNFL thickness in patients with PD compared to healthy controls (WMD = -5.76, 95% CI: -8.99 to -2.53, P = 0.0005). Additionally, differences of RNFL thickness in superior quadrant (WMD = -4.44, 95% CI: -6.93 to -1.94, P = 0.0005), inferior quadrant (WMD = -7.56, 95% CI: -11.33 to -3.78, P<0.0001), nasal quadrant (WMD = -3.12, 95% CI: -5.63 to -0.61, P = 0.01) and temporal quadrant (WMD = -4.63, 95% CI: -7.20 to -2.06, P = 0.0004) were all significant between the two groups.ConclusionIn view of these results and the noninvasive nature of OCT technology, we surmise that OCT could be a useful tool for evaluating the progression of the Parkinson disease.Trial registrationClinicalTrials.gov NCT01928212.
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Project description:BackgroundAlzheimer's disease (AD) pathology precedes symptoms and its detection can identify at-risk individuals who may benefit from early treatment. Since the retinal nerve fiber layer (RNFL) is depleted in established AD, we tested whether its thickness can predict whether cognitively healthy (CH) individuals have a normal or pathological cerebrospinal fluid (CSF) Aß42 (A) and tau (T) ratio.MethodsAs part of an ongoing longitudinal study, we enrolled CH individuals, excluding those with cognitive impairment and significant ocular pathology. We classified the CH group into two sub-groups, normal (CH-NAT, n = 16) or pathological (CH-PAT, n = 27), using a logistic regression model from the CSF AT ratio that identified >85% of patients with a clinically probable AD diagnosis. Spectral-domain optical coherence tomography (OCT) was acquired for RNFL, ganglion cell-inner plexiform layer (GC-IPL), and macular thickness. Group differences were tested using mixed model repeated measures and a classification model derived using multiple logistic regression.ResultsMean age (± standard deviation) in the CH-PAT group (n = 27; 75.2 ± 8.4 years) was similar (p = 0.50) to the CH-NAT group (n = 16; 74.1 ± 7.9 years). Mean RNFL (standard error) was thinner in the CH-PAT group by 9.8 (2.7) μm; p < 0.001. RNFL thickness classified CH-NAT vs. CH-PAT with 87% sensitivity and 56.3% specificity.ConclusionsOur retinal data predict which individuals have CSF biomarkers of AD pathology before cognitive deficits are detectable with 87% sensitivity. Such results from easy-to-acquire, objective and non-invasive measurements of the RNFL merit further study of OCT technology to monitor or screen for early AD pathology.
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Project description:ObjectiveTo evaluate the distribution of macula and circumpapillary retina nerve fiber layer (cpRNFL) thickness and other associated factors among grade-1 primary school children in Lhasa using spectral-domain optical coherence tomography (SD-OCT).MethodologyOCT assessment was conducted on 1856 grade-1 students from 7 primary schools in Lhasa, Tibet following a successful random stratified sampling of the students. Each child underwent comprehensive general and ocular examinations as well as an SD-OCT detection (12 × 9 mm, 3D wide scan mode, Topcon 3D OCT-1) to assess the thickness of the macula, ganglion cell-inner plexiform layer (GCIPL), ganglion cell complex (GCC), and cpRNFL. Multivariate and correlation analyses were performed to evaluate the association of the demographic and ocular variables.ResultsThe average age of the 1762 (94.43%) students who underwent OCT assessment was 6.83 ± 0.46 years. Among them, 984 (53.02%) were boys. The number of students who had macular, cpRNFL, and optic disc scans completed and with adequate image quality were 1412 (82.2%), 1277 (74.4%), and 1243 (72.4%), respectively. The average macula full retinal thickness (FRT), GCIPL, GCC, and cpRNFL thickness of the students was 279.19 ± 10.61 μm, 76.41 ± 4.70 μm, 108.15 ± 6.15 μm, and 112.33 ± 13.5 μm, respectively. Multivariate regression and correlation analysis further revealed that boys and girls had significant differences in their average cpRNFL thickness. Moreover, GCC and GCIPL thickness was negatively correlated with IOP but positively correlated with the body mass index. The thickness of all the layers of the macula and cpRNFL were positively correlated with spherical equivalent. Further to this, the average macular FRT, GCIPL, and GCC thicknesses were positively correlated with cpRNFL global thickness.ConclusionThis study describes the normal distribution of macular retina, cpRNFL, and optic disc parameters in grade-1 Tibetan children in Lhasa. It contributes to the establishment of a normative ophthalmology database of Tibetan children, and advances the ability of OCT in ophthalmic disorder diagnosis during long-term monitoring in plateau.
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Project description:Cross-sectional studies of optical coherence tomography (OCT) show that retinal nerve fiber layer (RNFL) thickness is reduced in multiple sclerosis (MS) and correlates with visual function. We determined how longitudinal changes in RNFL thickness relate to visual loss. We also examined patterns of RNFL thinning over time in MS eyes with and without a prior history of acute optic neuritis (ON).Patients underwent OCT measurement of RNFL thickness at baseline and at 6-month intervals during a mean follow-up of 18 months at 3 centers. Low-contrast letter acuity (2.5%, 1.25% contrast) and visual acuity (VA) were assessed.Among 299 patients (593 eyes) with >or=6 months follow-up, eyes with visual loss showed greater RNFL thinning compared to eyes with stable vision (low-contrast acuity, 2.5%: p < 0.001; VA: p = 0.005). RNFL thinning increased over time, with average losses of 2.9microm at 2 to 3 years and 6.1microm at 3 to 4.5 years (p < 0.001 vs 0.5-1-year follow-up interval). These patterns were observed for eyes with or without prior history of ON. Proportions of eyes with RNFL loss greater than test-retest variability (>or=6.6microm) increased from 11% at 0 to 1 year to 44% at 3 to 4.5 years (p < 0.001).Progressive RNFL thinning occurs as a function of time in some patients with MS, even in the absence of ON, and is associated with clinically significant visual loss. These findings are consistent with subclinical axonal loss in the anterior visual pathway in MS, and support the use of OCT and low-contrast acuity as methods to evaluate the effectiveness of putative neuroprotection protocols.
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Project description:The purpose is to evaluate the effects of multiple intravitreal ranibizumab (IVR) and aflibercept (IVA) injections on peripapillary retinal nerve fiber layer (RNFL) thickness in patients with exudative age-related macular degeneration (AMD). This retrospective, observational, consecutive case series study enrolled patients newly diagnosed with monocular exudative AMD from January 2014 to October 2019 who were administered IVR or IVA injections. Normal fellow eyes were included as controls. Medical records and spectral domain optical coherence tomography results were reviewed at baseline and at 3, 6, and 12 months after injection. No statistically significant differences in peripapillary RNFL thickness and intraocular pressure were observed between the treated and fellow eyes in the two groups. The global RNFL thicknesses for the treated eyes decreased significantly after 12 months compared with baseline, but no significant difference was observed in any of the six examined sectors (temporal, superior temporal, superior nasal, nasal, inferior nasal, and inferior temporal). At 12 months, the central macular thickness of the treated eyes decreased significantly. Multiple IVR and IVA injections are apparently safe considering peripapillary RNFL damage in patients with exudative AMD. The decreased RNFL thickness of the global sector was presumably due to anatomical improvement of macular lesions.
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