Retinal hyperreflective foci in Fabry disease

Abstract Background Fabry disease (FD) is an X-linked inherited storage disorder caused by deficiency of lysosomal alpha-Galactosidase A. Here we describe new retinal findings in patients with FD assessed by Spectral domain optical coherence tomography (SD-OCT) and their possible clinical relevance. Methods 54 eyes of 27 FD patients and 54 eyes of 27 control subjects were included. The ophthalmic examination included visual acuity testing, tonometry, slit lamp and fundus examination. SD-OCT imaging of the macula was performed in all subjects. Central retinal thickness and retinal nerve fiber layer analysis were quantified. Vessel tortuosity was obtained by a subjective scoring and mathematically calculated. Inner retinal hyperreflective foci (HRF) were quantified, clinically graded and correlated with a biomarker of Fabry disease (lyso-Gb3). Results In comparison to an age-matched control group, a significant amount of HRF was identified in macular SD-OCT images in FD patients. These HRF were localized within the inner retinal layers. Furthermore, lyso-Gb3 levels correlated significantly with the quantitative evaluation of HRF (p < 0,001). In addition, the vessel tortuosity was remarkably increased in FD patients compared to control persons and correlated significantly with lyso-G3 levels (p = 0.005). A further subanalysis revealed significantly higher HRF and vessel tortuosity scores in male patients with the classic FD phenotype. Conclusions The observational, cross sectional, comparative study describes novel intraretinal findings in patients with FD. We were able to identify suspicious HRF within the inner retinal layers. These findings were not accompanied by functional limitations, as visual acuity remained unchanged. However, HRF correlated well with lyso-Gb3, a degradation product of the accumulating protein Gb3 and might potentially indicate Gb3 accumulation within the highly metabolic and densely vascularized macula.

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Color vision is strongly associated with retinal thinning in multiple sclerosis

Multiple Sclerosis Journal ◽

10.1177/1352458511431972 ◽

2012 ◽

Vol 18 (7) ◽

pp. 991-999 ◽

Cited By ~ 44

Author(s):

Pablo Villoslada ◽

Ami Cuneo ◽

Jeffrey Gelfand ◽

Stephen L Hauser ◽

Ari Green

Keyword(s):

Multiple Sclerosis ◽

Visual Acuity ◽

Color Vision ◽

Color Discrimination ◽

Visual Pathway ◽

Visual Disability ◽

Fiber Layer ◽

Cross Sectional ◽

Low Contrast ◽

Sd Oct

Objectives: Multiple Sclerosis (MS) frequently causes injury to the anterior visual pathway (AVP), impairing quality of life due to visual dysfunction. Development of biomarkers in MS is a high priority and both low-contrast visual acuity (LCVA) and time-domain optical coherence tomography (TD-OCT) have been proposed as candidates for this purpose. We sought to assess whether psychophysical assessments of color vision are similarly correlated with structural measures of AVP injury, and therefore augment measures of visual disability in MS. Methods: We studied the association between high-contrast visual acuity (HCVA), LCVA, color vision (Hardy–Rand–Rittler plates (HRR) and Lanthony D15 tests) and OCT, using both high-resolution spectral-domain OCT (SD-OCT; Spectralis, Heidelberg Engineering, Germany) and TD-OCT (Stratus, Carl Zeiss, US) in a cohort of 213 MS patients (52 with previous optic neuritis) and 47 matched controls in a cross-sectional study. Results: We found that MS patients have impairments in HCVA and LCVA ( p < 0.001) but that they suffer from even more profound abnormalities in color discrimination ( p < 0.0001). We found strong correlation between color vision and SD-OCT measures of retinal nerve fiber layer (RNFL) thickness (average RNFL, r = 0.594, p < 0.001) and papillomacular bundle thickness ( r = −0.565, p < 0.001). The correlation between OCT scores and functional visual impairments of all types was much stronger for SD-OCT than for TD-OCT. Conclusion: Our results indicate that color vision is highly correlated with these OCT scores when compared with traditional measures of visual acuity. Also we found that SD-OCT is superior to TD-OCT for detecting anterior visual pathway damage in MS. This makes both color-visual measures and SD-OCT strong candidate biomarkers of disease progression.

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Optical Coherence Tomography in Best Vitelliform Macular Dystrophy

European Journal of Ophthalmology ◽

10.5301/ejo.5000878 ◽

2017 ◽

Vol 27 (2) ◽

pp. 201-204 ◽

Cited By ~ 8

Author(s):

Maurizio Battaglia Parodi ◽

Pierluigi Iacono ◽

Francesco Romano ◽

Gianluigi Bolognesi ◽

Francesco Fasce ◽

...

Keyword(s):

Optical Coherence Tomography ◽

Visual Acuity ◽

Pigment Epithelium ◽

Retinal Pigment ◽

Macular Dystrophy ◽

Optical Coherence ◽

Vitelliform Macular Dystrophy ◽

Retinal Layers ◽

Hyperreflective Foci ◽

Sd Oct

Purpose To analyze spectral-domain optical coherence tomography (SD-OCT)-specific findings in the different stages of vitelliform macular dystrophy (VMD). Methods Thirty-seven patients were prospectively recruited. All the patients underwent a complete ophthalmologic examination, including best-corrected visual acuity (BCVA), biomicroscopy, and SD-OCT. The examined findings were vitelliform material, neurosensory detachment, intraretinal hyperreflective foci, and the status of external limiting membrane, ellipsoid zone, and retinal pigment epithelium. The primary outcome was the stratification of SD-OCT findings in each VMD stage. Secondary outcomes included the description of different characteristics related to intraretinal hyperreflective foci. Results Outer retinal layers were preserved almost exclusively in stage 1 (range 70%-100%), whereas their disruption and absence were typical of stages 2 to 4 (83%-100%) and stage 5 (67%-83%), respectively. Vitelliform material was found always in stages 2 and 3, 89% of stage 4, and rarely in stage 5 (33%). Neurosensory detachment was to some extent representative of stages 3 and 4 (80% and 72%, respectively) when compared with the other stages (p<0.001). Hyperreflective foci (16% of all eyes) demonstrated a progressive increase across stages 2 to 4, with slightly reduced figure in stage 5. These foci were located in the outer nuclear and plexiform layers, showed different sizes, and were not associated with a visual acuity reduction (p = 0.64). Conclusions A progressive deterioration of the outer retinal layers was noticeable in more advanced stages of VMD. The reduction of vitelliform material from stage 3 to 4 was paralleled by an increased evidence of neurosensory detachment. Although showing different size and location, hyperreflective foci did not correlate with worse BCVA.

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COVID-19: More than a Respiratory Virus, An Optical Coherence Tomography Study

10.21203/rs.3.rs-160946/v1 ◽

2021 ◽

Author(s):

ESRA DAG SEKER ◽

Elif Inci ERBAHCECI TIMUR

Keyword(s):

Optical Coherence Tomography ◽

Outer Nuclear Layer ◽

Plexiform Layer ◽

Control Group ◽

Inner Plexiform Layer ◽

Optical Coherence ◽

Ocular Pain ◽

Fiber Layer ◽

Retinal Layers ◽

Sd Oct

Abstract Purpose: The purpose of this study is to investigate anatomic and morphologic features of inner and outer retinal layers in patients recovered from COVID-19 with Spectral Domain Optical Coherence Tomography (SD-OCT), whwther correlate with any symptoms during disease process.Methods: 32 patients recovered from COVID-19; age and gender matched 36 healthy controls were included in this cross-sectional study. Ganglion cell-inner plexiform layer, macular and periapiller retinal nerve fiber layer (RNFL), inner nuclear layer (INL), outer nuclear layer (ONL), outer plexiform layer (OPL) and the outer retinal hyperreflective bands including external limiting membrane (ELM), ellipsoid zone (EZ) and interdigitation zone (IZ) were examined with SD-OCT. The differences of each retinal layers thickness among subgroup analysis of ocular pain and headache were also compared. Results: Macular RNFL of inner and outer nasal and outer inferior quadrants were thinner in COVID-19 patients compared to healthy control group. (p=0.046, p=0.014 and p=0.016, respectively). Thinning in outer superior quadrant of GCIPL and INL quadrants were detected in patients with headache (p=0.026 and p=0.01). Superonasal and inferotemporal sectors of pRNFL were thinner in patients with ocular pain compared to patients without ocular pain (p=0.024 an p=0.015). Integrity of EZ, ELM and IZ were evaluated as continious line and protected on each OCT scans. Conclusion: The study demostrated convincing evidence that SARS-CoV-2 can affect the inner and outer retinal layers, with subclinical localized alterations particularly in patients with headache and ocular pain symptoms during COVID-19 period.

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Epiretinal Membrane Surgery: Structural Retinal Changes Correlate with the Improvement of Visual Function

Journal of Clinical Medicine ◽

10.3390/jcm10010090 ◽

2020 ◽

Vol 10 (1) ◽

pp. 90

Author(s):

Andrea Cacciamani ◽

Pamela Cosimi ◽

Guido Ripandelli ◽

Marta Di Nicola ◽

Fabio Scarinci

Keyword(s):

Visual Acuity ◽

Visual Function ◽

Epiretinal Membrane ◽

Outer Nuclear Layer ◽

Plexiform Layer ◽

Retinal Layer ◽

Inner Plexiform Layer ◽

Fiber Layer ◽

Retinal Layers ◽

Sd Oct

Several parameters have been studied for identifying the visual outcomes after pars plana vitrectomy (PPV) for epiretinal membrane (ERM) peeling. This retrospective study aimed to analyze structural retinal changes with spectral domain-optical coherence tomography (SD-OCT) and their correlations with visual acuity improvement in patients with ERM undergoing PPV. Twenty-one pseudophakic eyes were enrolled in the study. Ophthalmic evaluations included best corrected visual acuity (BCVA) and retinal layer thickness measurements with SD-OCT. The segmentation of the retina was divided into four parts: the inner retinal layer (IRL), composed of an internal limiting membrane, retinal nerve fiber layer, ganglion cell layer, and inner plexiform layer; inner nuclear layer (INL); outer plexiform layer (OPL); and outer nuclear layer (ONL). Correlations between changes in retinal layer thicknesses and BCVA were explored over a 6 month follow-up period. The postoperative thickness decrease of the INL was significantly correlated with thickness changes in all other measured retinal layers (p < 0.001). Non-parametric linear regression showed that postoperative improvement in BCVA was associated with a postoperatively decreased thickness in the IRL (p = 0.021), INL (p = 0.039), and OPL (p = 0.021). In eyes undergoing PPV, postoperative thickness decreases of the IRL, INL, and OPL were correlated with visual acuity improvements. Re-compaction of these retinal layers after relieving ERM-induced traction may be an important factor in postoperative visual function improvement.

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Optical Coherence Tomography and Pattern Electroretinography Changes in Egyptian Patients with Major Depressive Disorder

QJM ◽

10.1093/qjmed/hcab109.023 ◽

2021 ◽

Vol 114 (Supplement_1) ◽

Author(s):

Mostafa S ElShaarawi ◽

Ayman A Gaafar ◽

Hisham S. Saad Eldin ◽

Randa H Ali

Keyword(s):

Optical Coherence Tomography ◽

Major Depressive Disorder ◽

Depressive Disorder ◽

Control Group ◽

Ophthalmological Examination ◽

Optical Coherence ◽

Fiber Layer ◽

Major Depressive ◽

Cross Sectional ◽

Pattern Electroretinography

Abstract Background Major depressive disorder (MDD) is a common psychiatric disorder that affects nearly 11.1-14.6 % of the population in their lifetime. Pathophysiology and brain imaging findings show that degenerative and inflammatory processes may play a role. Meta-analysis of voxel-based morphometry studies in MDD demonstrated significant gray matter loss. From anatomical and embryological perspectives, the retina can be considered a unique extension of the brain and is able to reflect axonal histopathology. Being unmyelinated, it can provide insight into the pathophysiological processes of diseases with a neurodegenerative element. Aim to compare retinal optical coherence tomography (OCT) parameters in a group of MDD patients with a healthy control group and to correlate OCT parameters with pattern electroretinography (PERG) parameters. Method a controlled cross sectional study was conducted on 30 MDD patients and 28 age and sex matched controls. Both groups had a full ophthalmological examination, OCT imaging and 7 patients and 11 controls have PERG recorded. Results Thinning of the superior retinal nerve fiber layer, thinning of most of the ganglion cell inner plexiform (GCIP) layer, thinning of most of the macular thickness and thinning of macular volume in both eyes were detected. There was a statistically significant positive correlation between the left GCIP layer and the amplitude of the N95 wave. Also a statistically significant negative correlation existed between MDD duration in years with the left eye's average volume of the outer ring of the macula. Conclusion Significant retinal changes were detected by OCT in MDD patients supporting the theory of neurodegeneration as a pathophysiology of MDD.

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MO055THE IMPACT OF THE COVID-19 PANDEMIC ON MOOD STATUS AND TREATMENT ADHERENCE IN PATIENTS WITH FABRY DISEASE

Nephrology Dialysis Transplantation ◽

10.1093/ndt/gfab080.0027 ◽

2021 ◽

Vol 36 (Supplement_1) ◽

Author(s):

Mevlut Tamer Dincer ◽

Cebrail Karaca ◽

Betul Sarac ◽

Saffa Ahmadzada ◽

Alev Bakir ◽

...

Keyword(s):

Fabry Disease ◽

Access To Health Care ◽

Patient Adherence ◽

Depression Scale ◽

Control Measures ◽

Infusion Therapy ◽

Control Group ◽

Cross Sectional ◽

Enzyme Replacement ◽

Home Based

Abstract Background and Aims Fabry disease is a rare metabolic disorder, lifelong enzyme replacement therapy with recombinant human alpha-galactosidase A (agalsidase) constituted the cornerstone of disease-specific therapy. COVID-19 pandemic and epidemic control measures including lockdowns impaired access to health care services. We examined the effect of COVID-19 pandemic and lockdown measures on mood status and management of Fabry disease patients. Method We conducted a cross-sectional study between October 2020 and December 2020. We used the Hospital Anxiety and Depression Scale (HADS) to evaluate the mood statuses of FD patients and the Morisky Medication Adherence Scale (MMAS-4) to assess patient adherence. We also examined age and sex-matched control group to compare mood status. Results A total of 68 (Male 48.5 %, mean age 37.0) FD patients were under regular follow-up in our institution, 59 of those patients were taking ERT every other week. Two of our patients had reported having a COVID-19 infection, and both of them recovered. 25 patients reported to miss an ERT for a median of one dose, 16 of these 25 patients have reported that they did not come to the hospital because of infection fear. Half of the patients had adopted home-based infusion; they arranged a nurse for home-based infusion therapy by their own means. According to MMAS-4 FD patients had good adherence to their therapy (Median score 0, range 0-2). Mood status of FD patients and controls are shown in Table 1. Both HADS depression and anxiety scores were higher in the control group compared to FD patients. Additionally, abnormal scores were more prevalent for HADS depression scores in controls (Figure 1). Conclusion We found that the mood status of FD patients was better than the control group. Traumatic growth may be an important factor to explain this finding. Their adherence to therapy was good. Home-based therapy was the preferred method by the patients. Government-supported home therapy programs might be beneficial for FD patients to increase adherence to the therapy.

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Association between central retinal thickness and low luminance visual acuity in early age-related macular degeneration

European Journal of Ophthalmology ◽

10.1177/1120672120968740 ◽

2020 ◽

pp. 112067212096874

Author(s):

María Cinta Puell ◽

Francisco Javier Hurtado-Ceña ◽

María Jesús Pérez-Carrasco ◽

Inés Contreras

Keyword(s):

Visual Acuity ◽

Macular Degeneration ◽

Retinal Thickness ◽

Central Area ◽

Age Related Macular Degeneration ◽

Central Retinal Thickness ◽

Cross Sectional ◽

Age Related ◽

Low Luminance ◽

Sd Oct

Purpose/Aim: To examine whether central retinal thickness (CRT) is related to mesopic visual acuity (VA) and low luminance deficit (LLD, difference between photopic and mesopic VA) in eyes with early and intermediate age-related macular degeneration (AMD). Materials and Methods: In a cross-sectional study, 50 pseudophakic subjects older than 63 years were divided into three groups (no AMD, early AMD and intermediate AMD). Spectral domain optical coherence tomography (SD-OCT) was used to measure CRT in the 1 mm-central-area. Best-corrected distance VA was measured under photopic or mesopic luminance conditions and LLD calculated. Subjects were stratified by VA impairment to compare CRTs across these groups. Relationships were examined by stepwise multiple linear regression. Results: No significant differences in mean CRT, photopic and mesopic VA or LLD were detected between the groups no AMD, early AMD and intermediate AMD. However, mean CRTs were 20 microns and 18 microns thicker in the eyes with impaired mesopic VA (> 0.3 logMAR) and impaired LLD (⩾ 0.3 logMAR) compared to the eyes with non-impaired VA or LLD respectively (both p < 0.01). CRT and mesopic pupil size were independent predictors of mesopic VA ( p = 0.001). CRT emerged as the only independent predictor of LLD ( p = 0.004). Conclusions: Increased CRT was linked to worse retinal function when measured under mesopic conditions in eyes without AMD and eyes with early to intermediate AMD. SD-OCT imaging combined with VA measurements under low luminance conditions could be a useful tool to detect early AMD.

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Optical coherence tomography identifies outer retina thinning in frontotemporal degeneration

Neurology ◽

10.1212/wnl.0000000000004500 ◽

2017 ◽

Vol 89 (15) ◽

pp. 1604-1611 ◽

Cited By ~ 12

Author(s):

Benjamin J. Kim ◽

David J. Irwin ◽

Delu Song ◽

Ebenezer Daniel ◽

Jennifer D. Leveque ◽

...

Keyword(s):

Optical Coherence Tomography ◽

Outer Nuclear Layer ◽

Retinal Layer ◽

Optical Coherence ◽

Outer Retina ◽

Frontotemporal Degeneration ◽

Cross Sectional ◽

Clinical Criteria ◽

Retinal Layers ◽

Sd Oct

Objective:Whereas Alzheimer disease (AD) is associated with inner retina thinning visualized by spectral-domain optical coherence tomography (SD-OCT), we sought to determine if the retina has a distinguishing biomarker for frontotemporal degeneration (FTD).Methods:Using a cross-sectional design, we examined retinal structure in 38 consecutively enrolled patients with FTD and 44 controls using a standard SD-OCT protocol. Retinal layers were segmented with the Iowa Reference Algorithm. Subgroups of highly predictive molecular pathology (tauopathy, TAR DNA–binding protein 43, unknown) were determined by clinical criteria, genetic markers, and a CSF biomarker (total tau: β-amyloid) to exclude presumed AD. We excluded eyes with poor image quality or confounding diseases. SD-OCT measures of patients (n = 46 eyes) and controls (n = 69 eyes) were compared using a generalized linear model accounting for intereye correlation, and correlations between retinal layer thicknesses and Mini-Mental State Examination (MMSE) were evaluated.Results:Adjusting for age, sex, and race, patients with FTD had a thinner outer retina than controls (132 vs 142 μm, p = 0.004). Patients with FTD also had a thinner outer nuclear layer (ONL) (88.5 vs 97.9 μm, p = 0.003) and ellipsoid zone (EZ) (14.5 vs 15.1 μm, p = 0.009) than controls, but had similar thicknesses for inner retinal layers. The outer retina thickness of patients correlated with MMSE (Spearman r = 0.44, p = 0.03). The highly predictive tauopathy subgroup (n = 31 eyes) also had a thinner ONL (88.7 vs 97.4 μm, p = 0.01) and EZ (14.4 vs 15.1 μm, p = 0.01) than controls.Conclusions:FTD is associated with outer retina thinning, and this thinning correlates with disease severity.

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Retinal Layers Changes in Human Preclinical and Early Clinical Diabetic Retinopathy Support Early Retinal Neuronal and Müller Cells Alterations

Journal of Diabetes Research ◽

10.1155/2013/905058 ◽

2013 ◽

Vol 2013 ◽

pp. 1-8 ◽

Cited By ~ 75

Author(s):

Stela Vujosevic ◽

Edoardo Midena

Keyword(s):

Diabetic Retinopathy ◽

Fundus Photography ◽

Retinal Ganglion ◽

Fiber Layer ◽

Exclusion Criteria ◽

Retinal Layers ◽

Spectral Domain Oct ◽

Rnfl Thickness ◽

Sd Oct ◽

Peripapillary Area

Purpose. To evaluate the changes in thickness of individual inner and outer macular and peripapillary retinal layers in diabetes.Methods. 124 subjects (124 eyes) were enrolled: 74 diabetics and 50 controls. Macular edema, proliferative diabetic retinopathy (DR), any intraocular treatment and refractive error>6diopters were the main exclusion criteria. Full ophthalmic examination, stereoscopic fundus photography, and spectral domain-OCT were performed. After automatic retinal segmentation (layering) in 5 layers, the thickness of each layer was calculated, and values compared among groups.Results. Thirty patients had no DR, 44 patients had non proliferative DR. A significant increase of inner plexiform and nuclear layers was found in DR eyes versus controls (P<0.001). A significant decrease (P<0.01) of retinal nerve fiber layer (RNFL) and at specific sites of retinal ganglion cell layer (P=0.02) was documented in the macula. In the peripapillary area there were no differences between diabetics and controls.Conclusions. Decreased RNFL thickness and increased INL/OPL thickness in diabetics without DR or with initial DR suggest early alterations in the inner retina. On the contrary, the outer retina seems not to be affected at early stages of DM. Automatic intraretinal layering by SD-OCT may be a useful tool to diagnose and monitor early intraretinal changes in DR.

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Evaluation of Depressive Symptoms in Elderly With Glaucoma

10.21203/rs.3.rs-887540/v1 ◽

2021 ◽

Author(s):

José de Paula Barbosa Neto ◽

Luiz Eduardo Fernandes Lima ◽

Matheus Carvalho Vasconcelos ◽

Luis Eduardo Reis Amaral ◽

Lise Queiroz Lima Verde ◽

...

Keyword(s):

Visual Acuity ◽

Depressive Symptoms ◽

Geriatric Depression Scale ◽

Depression Scale ◽

Clinical History ◽

Average Score ◽

Control Group ◽

Geriatric Depression ◽

Cross Sectional ◽

Glaucoma Group

Abstract Purpose: The aim of this study was to assess the presence of depressive symptoms in elderly people with glaucoma and other clinical and epidemiological factors that were associated to the presence depression.Methods: A cross-sectional study was carried out at the Hospital de Olhos Leiria de Andrade, including volunteers aged 60 years or over. Individuals were separated into patients with glaucoma and patients without glaucoma. Volunteers responded a questionnaire, containing data from clinical history and the Geriatric Depression Scale – 15, and were submitted to a complete ophthalmological evaluation.Results: Overall, 42 patients in the glaucoma group and 40 patients in the non-glaucoma group were evaluated. The mean age among cases was 70.2 years, while in the control group it was 65.7 years. The evaluation of the Geriatric Depression Scale – 15 showed an average score of 4.21 and 3.82 in the case and control groups, respectively, with no statistical difference. However, the worsening of visual acuity was related to a greater number of depressive symptoms when comparing individuals with glaucoma. When analyzing the correlation between age, in both groups, and the number of depressive symptoms, there was no statistical significance.Conclusion: The presence of glaucoma was not associated with an increase in the Geriatric Depression Scale-15 score. However, the worsening in visual acuity was correlated to a greater number of depressive symptoms.

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