scholarly journals Ophthalmological findings in facioscapulohumeral dystrophy

2019 ◽  
Vol 1 (1) ◽  
Author(s):  
Rianne J M Goselink ◽  
Vivian Schreur ◽  
Caroline R van Kernebeek ◽  
George W Padberg ◽  
Silvère M van der Maarel ◽  
...  
Keyword(s):  
Vision Loss ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Array Size ◽  
Fundus Photography ◽  
Ophthalmological Examination ◽  
Healthy Controls ◽  
Facioscapulohumeral Dystrophy ◽  
Repeat Array ◽  
D4z4 Repeat

Abstract Ophthalmological abnormalities in facioscapulohumeral dystrophy may lead to treatable vision loss, facilitate diagnostics, could help unravelling the pathophysiology and serve as biomarkers. In this study, we provide a detailed description of the ophthalmological findings in a well-defined cohort of patients with facioscapulohumeral dystrophy using state of the art retina imaging techniques. Thirty-three genetically confirmed patients (aged 7–80 years) and 24 unrelated healthy controls (aged 6–68 years) underwent clinical ophthalmological examination, fundus photography, optical coherence tomography/angiography, genotyping and neurological examination. All patients had normal corrected visual acuity and normal intraocular pressure. In 27 of the 33 patients, weakness of the orbicularis oculi was observed. Central retinal pathology, only seen in patients and not in healthy controls, included twisting (tortuosity) of the retinal arteries in 25 of the 33 patients and retinal pigment epithelium defects in 4 of the 33 patients. Asymmetrical foveal hypoplasia was present in three patients, and exudative abnormalities were observed in one patient. There was a correlation between the severity of retinal tortuosity and the D4Z4 repeat array size (R2 = 0.44, P < 0.005). Follow-up examination in a subgroup of six patients did not show any changes after 2 years. To conclude, retinal abnormalities were frequent but almost always subclinical in patients with facioscapulohumeral dystrophy and consisted primarily of arterial tortuosity and foveal abnormalities. Retinal tortuosity was seen in the retinal arterioles and correlated with the D4Z4 repeat array size, thereby providing clinical evidence for an underlying genetic linkage between the retina and facioscapulohumeral dystrophy.

scholarly journals Central Serous Chorioretinopathy in a Myopic Patient with Pachychoroid

2017 ◽  
Vol 1 (1) ◽  
pp. oapoc.0000007
Author(s):  
Elon H.C. van Dijk ◽  
Kasper L. de Roon Hertoge ◽  
Camiel J.F. Boon
Keyword(s):  
Central Serous Chorioretinopathy ◽  
High Myopia ◽  
Retinal Pigment Epithelial ◽  
Pigment Epithelium ◽  
Fundus Autofluorescence ◽  
Retinal Pigment ◽  
Fundus Photography ◽  
Ophthalmological Examination ◽  
Patient Presentation ◽  
Pachychoroid Pigment Epitheliopathy

Introduction To report a case of central serous chorioretinopathy (CSC) associated with a retinal pigment epithelium detachment in a myopic patient with marked pachychoroid. Patient presentation Case report of a 37-year-old male patient with relatively high myopia (-5.00D in OD/-5.75D in OS), unilateral CSC, and bilateral retinal pigment epithelial detachments, pachychoroid, and choroidal hyperaemia. Standard ophthalmological examination and multimodal imaging, including fundus photography, fundus autofluorescence, spectral-domain and enhanced depth optical coherence tomography, and indocyanine green angiography were performed. Conclusions Findings characteristic for the spectrum of CSC/pachychoroid pigment epitheliopathy can be observed in patients with relatively high myopia. Based on the outcome of complete ophthalmological examination, this clinical picture can be discerned from other diseases, which is important for the optimal therapeutic approach.

scholarly journals Acute Zonal Occult Outer Retinopathy (AZOOR) Results from a Clinicopathological Mechanism Different from Choriocapillaritis Diseases: A Multimodal Imaging Analysis

Diagnostics ◽  
2021 ◽  
Vol 11 (7) ◽  
pp. 1184
Author(s):  
Carl P. Herbort ◽  
Ilir Arapi ◽  
Ioannis Papasavvas ◽  
Alessandro Mantovani ◽  
Bruno Jeannin
Keyword(s):  
Visual Field ◽  
Multimodal Imaging ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Immunosuppressive Treatment ◽  
Case Series ◽  
Fundus Photography ◽  
Ganglion Cell Complex ◽  
Ophthalmological Examination ◽  
Sequence Of Events

Background and aim: AZOOR is a rare disease characterized by loss of zones of outer retinal function, first described by J Donald Gass in 1993. Symptoms include acute onset photopsias and subjective visual field losses. The syndrome is characterized by a normal fundus appearance, scotomas and electroretinographic changes pointing towards outer retinal dysfunction. Evolution, response to immunosuppressive treatment and outcome are difficult to predict. The aim of this small case series was to identify the morphological changes and sequence of events in AZOOR thanks to multimodal imaging. Methods: Charts of AZOOR patients seen in the Centre for Ophthalmic Specialized care (COS, Lausanne, Switzerland) were analyzed by multimodal imaging including fundus photography, fluorescein angiography (FA), indocyanine green angiography (ICGA), blue light fundus autofluorescence (BL-FAF) and spectral domain optical coherence tomography (SD-OCT) in addition to a complete ophthalmological examination including visual field testing and microperimetry, as well as OCT angiography (OCT-A) and ganglion-cell complex analysis when available. Cases and Results: Three AZOOR patients with a mean follow-up of 47 ± 25.5 months were included following the clinical definitions laid down by J Donald Gass. The primary damage was identified at the level of the photoreceptor outer segments with an intact choriocapillaris and retinal pigment epithelium (RPE) layer, these structures being only secondarily involved with progression of the disease. Conclusion: Although AZOOR has often been included within white dot syndromes, some of which are now known to be choriocapillaris diseases (choriocapillaritis entities), our findings clearly commend to differentiate AZOOR from entities such as MEWDS (Multiple evanescent white dot syndrome), APMPPE (Acute Posterior Multifocal Placoid Pigment Epitheliopathy), MFC (Multifocal Choroiditis) and others, as the damage to photoreceptors is primary in AZOOR (a retinopathy) and secondary in choriocapillaritis (a choriocapillaropathy).

Cone dystrophy with supernormal rod responses: A rare KCNV2 gene variant

2021 ◽  
pp. 112067212110000
Author(s):  
João Esteves-Leandro ◽  
Sónia Torres-Costa ◽  
Sérgio Estrela-Silva ◽  
Renato Santos-Silva ◽  
Elisete Brandão ◽  
...  
Keyword(s):  
Rare Variant ◽  
Pigment Epithelium ◽  
Fundus Autofluorescence ◽  
Retinal Pigment ◽  
Pattern Electroretinogram ◽  
Fundus Photography ◽  
Cone Dystrophy ◽  
Ophthalmological Examination ◽  
Full Field ◽  
Visual Acuity Loss

Purpose: To describe the clinical, electrophysiological, and genetic findings of three Portuguese families with a rare variant in the KCNV2 gene resulting in “cone dystrophy with supernormal rod responses” (CDSRR). Methods: Retrospective clinical revision of five individuals from three unrelated families with CDSRR. Ophthalmological examination was described in all patients and included color vision testing, fundus photography, fundus autofluorescence (FAF) imaging, spectral domain-optical coherence tomography (SD-OCT), pattern electroretinogram (ERG), and full-field ERG. The mutational screening of the KCNV2 gene was performed with Sanger and Next Generation Sequencing. Results: All patients showed childhood-onset photophobia and progressive visual acuity loss with varying degrees of severity. In multimodal imaging, various degrees of retinal pigment epithelium disturbances and outer retinal atrophy, which tend to be worst with advancing age, were observed. Molecular screening identified a rare presumed truncating variant (p.Glu209Ter) in homozygosity in two families and in compound heterozygosity in a third family. Three patients showed ERG changes characteristic of CDSRR, however, two patients presented with incomplete electrophysiological features of the disease. Conclusion: A rare variant in the KCNV2 gene was identified in five patients from three Portuguese families. This variant often leads to a severe and progressive form of retinopathy. Considerable variability in the ERG responses among patients with this KCNV2 variant was observed.

scholarly journals Role of amyloid β-peptide in the pathogenesis of age-related macular degeneration

2021 ◽  
Vol 6 (1) ◽  
pp. e000774
Author(s):  
Minwei Wang ◽  
Shiqi Su ◽  
Shaoyun Jiang ◽  
Xinghuai Sun ◽  
Jiantao Wang
Keyword(s):  
Mitochondrial Dysfunction ◽  
Macular Degeneration ◽  
Vision Loss ◽  
Cell Structure ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Amyloid Β ◽  
Age Related Macular Degeneration ◽  
Amyloid Β Peptide ◽  
Age Related

Age-related macular degeneration (AMD) is the most common eye disease in elderly patients, which could lead to irreversible vision loss and blindness. Increasing evidence indicates that amyloid β-peptide (Aβ) might be associated with the pathogenesis of AMD. In this review, we would like to summarise the current findings in this field. The literature search was done from 1995 to Feb, 2021 with following keywords, ‘Amyloid β-peptide and age-related macular degeneration’, ‘Inflammation and age-related macular degeneration’, ‘Angiogenesis and age-related macular degeneration’, ‘Actin cytoskeleton and amyloid β-peptide’, ‘Mitochondrial dysfunction and amyloid β-peptide’, ‘Ribosomal dysregulation and amyloid β-peptide’ using search engines Pubmed, Google Scholar and Web of Science. Aβ congregates in subretinal drusen of patients with AMD and participates in the pathogenesis of AMD through enhancing inflammatory activity, inducing mitochondrial dysfunction, altering ribosomal function, regulating the lysosomal pathway, affecting RNA splicing, modulating angiogenesis and modifying cell structure in AMD. The methods targeting Aβ are shown to inhibit inflammatory signalling pathway and restore the function of retinal pigment epithelium cells and photoreceptor cells in the subretinal region. Targeting Aβ may provide a novel therapeutic strategy for AMD.

scholarly journals A human model of Batten disease shows role of CLN3 in phagocytosis at the photoreceptor–RPE interface

2021 ◽  
Vol 4 (1) ◽  
Author(s):  
Cynthia Tang ◽  
Jimin Han ◽  
Sonal Dalvi ◽  
Kannan Manian ◽  
Lauren Winschel ◽  
...  
Keyword(s):  
Photoreceptor Cell ◽  
Vision Loss ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Cell Loss ◽  
Human Model ◽  
Lysosomal Storage ◽  
Rpe Cells ◽  
Cln3 Disease

AbstractMutations in CLN3 lead to photoreceptor cell loss in CLN3 disease, a lysosomal storage disorder characterized by childhood-onset vision loss, neurological impairment, and premature death. However, how CLN3 mutations cause photoreceptor cell death is not known. Here, we show that CLN3 is required for phagocytosis of photoreceptor outer segment (POS) by retinal pigment epithelium (RPE) cells, a cellular process essential for photoreceptor survival. Specifically, a proportion of CLN3 in human, mouse, and iPSC-RPE cells localized to RPE microvilli, the site of POS phagocytosis. Furthermore, patient-derived CLN3 disease iPSC-RPE cells showed decreased RPE microvilli density and reduced POS binding and ingestion. Notably, POS phagocytosis defect in CLN3 disease iPSC-RPE cells could be rescued by wild-type CLN3 gene supplementation. Altogether, these results illustrate a novel role of CLN3 in regulating POS phagocytosis and suggest a contribution of primary RPE dysfunction for photoreceptor cell loss in CLN3 disease that can be targeted by gene therapy.

scholarly journals Association of Thiol–disulfide Homeostasis with Retinal Layer Thickness in Patients with Diabetes Mellitus

2021 ◽  
Author(s):  
Muhammet Cuneyt Bilginer ◽  
Abbas Ali Tam ◽  
Berna Evranos Ogmen ◽  
Bagdagul Yuksel Guler ◽  
Nagihan Ugurlu ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Diabetic Retinopathy ◽  
Layer Thickness ◽  
Disease Duration ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Control Group ◽  
Retinal Layer ◽  
Healthy Controls ◽  
Total Thiol

Abstract Background: This study aimed to investigate the relationship between early changes in retinal layer thickness and thiol–disulfide homeostasis in patients with type II diabetes mellitus (T2DM).Materials-Methods: There were 69 patients with T2DM (61 patients without retinopathy, 8 patients with retinopathy) and 21 healthy controls. In patients without retinopathy, 31 of the patients had a disease duration under 10 years, 30 of the patients had a disease duration over 10 years. Retinal layer thickness of the right eye was measured using Spectral Domain Optical Coherence Tomography. Results: Patients with T2DM and healthy controls had mean ages of 48.40 ± 8.25 years and 45.94 ± 7.32 years, respectively. The ganglion cell layer and retinal pigment epithelium thicknesses were significantly lesser in patients without diabetic retinopathy than those in the control group. In patients without diabetic retinopathy and with a disease duration of under 10 years, there was a negative correlation between the retinal nerve fiber layer thickness (µm) and disulphide/total thiol ratio, between the inner nuclear layer thickness (µm) and disulphide/native thiol ratio as well as disulphide/total thiol ratio (r= −0.376, p= 0.037; r= −0.356, p= 0.050; r= −0.380, p= 0.035, respectively) and positive correlation between the INL thickness (µm) and native thiol/total thiol ratio (r= 0.359, p= 0.047).Conclusion: Early changes in retinal layers in patients with DM were associated with thiol–disulfide homeostasis. Administration of therapeutic supplements may aid in the management of low thiol concentrations; this increases the importance of the study findings.

scholarly journals Progressive dysmorphia of retinal pigment epithelium in age related macular degeneration revealed by fluorescence lifetime imaging

2021 ◽  
Author(s):  
Martin Hammer ◽  
Juliane Jakob-Girbig ◽  
Linda Schwanengel ◽  
Christine A. Curcio ◽  
Somar Hasan ◽  
...  
Keyword(s):  
Retinal Pigment Epithelium ◽  
Macular Degeneration ◽  
Fluorescence Lifetime ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Age Related Macular Degeneration ◽  
Fundus Photography ◽  
Fluorescence Lifetime Imaging ◽  
Lifetime Imaging ◽  
Age Related

AbstractPurposeTo observe changes of the retinal pigment epithelium (RPE) on the transition from dysmorphia to atrophy in age related macular degeneration (AMD) by fluorescence lifetime imaging ophthalmoscopy (FLIO).MethodsMultimodal imaging including color fundus photography (CFP), optical coherence tomography (OCT), fundus autofluorescence (FAF) imaging, and FLIO was performed in 40 eyes of 37 patients with intermediate AMD and no evidence for geographic atrophy or macular neovascularization) (mean age: 74.2±7.0 years). Twenty-three eyes were followed for 28.3±18.3 months. Seven eyes had a second follow up after 46.6±9.0 months. Thickened RPE on OCT, hyperpigmentation on CFP, and migrated RPE, seen as hyperreflective foci (HRF) on OCT, were identified. Fluorescence lifetimes in two spectral channels (SSC: 500-560 nm, LSC: 560-720 nm) as well as emission spectrum intensity ratio (ESIR) of the lesions were measured by FLIO.ResultsAs hyperpigmented areas form and RPE migrates into the retina, FAF lifetimes lengthen and ESRI of RPE cells increase. Thickened RPE showed lifetimes of 256±49 ps (SSC) and 336±35 ps (LSC) and an ESIR of 0.552±0.079. For hyperpigmentation, these values were 317±68 ps (p<0.001), 377±56 ps (p<0.001), and 0.609±0.081 (p=0.001), respectively, and for HRF 337±79 ps (p<0.001), 414±50 ps (p<0.001), and 0.654±0.075 (p<0.001).ConclusionsIn the process of RPE degeneration, comprising different steps of dysmorphia, hyperpigmentation, and migration, lengthening of FAF lifetimes and a hypsochromic shift of emission spectra can be observed by FLIO. Thus, FLIO might provide early biomarkers for AMD progression and contribute to our understanding of RPE pathology.

scholarly journals PGC-1α Protects RPE Cells of the Aging Retina against Oxidative Stress-Induced Degeneration through the Regulation of Senescence and Mitochondrial Quality Control. The Significance for AMD Pathogenesis

2018 ◽  
Vol 19 (8) ◽  
pp. 2317 ◽  
Author(s):  
Kai Kaarniranta ◽  
Jakub Kajdanek ◽  
Jan Morawiec ◽  
Elzbieta Pawlowska ◽  
Janusz Blasiak
Keyword(s):  
Oxidative Stress ◽  
Cellular Senescence ◽  
Mitochondrial Biogenesis ◽  
Vision Loss ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Sirtuin 1 ◽  
Age Related Macular Degeneration ◽  
Rpe Cells ◽  
Age Related

PGC-1α (peroxisome proliferator-activated receptor gamma coactivator 1-alpha) is a transcriptional coactivator of many genes involved in energy management and mitochondrial biogenesis. PGC-1α expression is associated with cellular senescence, organismal aging, and many age-related diseases, including AMD (age-related macular degeneration), an important global issue concerning vision loss. We and others have developed a model of AMD pathogenesis, in which stress-induced senescence of retinal pigment epithelium (RPE) cells leads to AMD-related pathological changes. PGC-1α can decrease oxidative stress, a key factor of AMD pathogenesis related to senescence, through upregulation of antioxidant enzymes and DNA damage response. PGC-1α is an important regulator of VEGF (vascular endothelial growth factor), which is targeted in the therapy of wet AMD, the most devastating form of AMD. Dysfunction of mitochondria induces cellular senescence associated with AMD pathogenesis. PGC-1α can improve mitochondrial biogenesis and negatively regulate senescence, although this function of PGC-1α in AMD needs further studies. Post-translational modifications of PGC-1α by AMPK (AMP kinase) and SIRT1 (sirtuin 1) are crucial for its activation and important in AMD pathogenesis.

The Effects of Indocyanine Green Dye-Enhanced Photocoagulation on the Blood Flow in the Choriocapillaris and the Choroidal Neovascularization (CNV)

2000 ◽  
Author(s):  
C. von Kerczek ◽  
L. Zhu ◽  
A. Ernest ◽  
C. Eggleton ◽  
L. D. T. Topoleski ◽  
...  
Keyword(s):  
Laser Treatment ◽  
Choroidal Neovascularization ◽  
Vision Loss ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
The United States ◽  
Age Related Macular Degeneration ◽  
Central Vision ◽  
Age Related ◽  
Direct Laser

Abstract Age-related macular degeneration (AMD) is the most common cause of vision loss in patients aged 65 years and older in the United States. In the majority of cases, the loss of central vision is secondary to exudative changes and fibrovascular scarring following choroidal neovascularization (CNV). Prompt laser treatment is recommended [Asrani et al., 1996; Macular Photocoagulation Study Group, 1993; Schneider et al, 1998]. However, direct laser treatment to the entire subfoveal lesion is almost invariably associated with immediate loss of central vision. Loss of central vision may be due to direct damage to foveal photoreceptors and retinal pigment epithelium or from damage to the nerve fiber layer serving foveal function [Han et al., 1988].

Multimodal Retinal Imaging in Spinocerebellar Ataxia Type 1 Maculopathy

2021 ◽  
Vol 4 ◽  
pp. 2
Author(s):  
Mirriam Mikhail ◽  
Netan Choudhry
Keyword(s):  
Spinocerebellar Ataxia ◽  
Vision Loss ◽  
Retinal Pigment ◽  
Fundus Photography ◽  
Spinocerebellar Ataxia Type ◽  
Macular Dystrophy ◽  
Spinocerebellar Ataxia Type 1 ◽  
Imaging Results ◽  
Ocular Imaging

Objectives: The objective of the study was to investigate and report the multimodal ocular imaging findings associated with spinocerebellar ataxia type 1 (SCA 1) associated maculopathy. Methods: A full ophthalmologic assessment was completed in a 70-year-old male with confirmed SCA1 and noted progressive bilateral vision loss. Investigations included dilated fundus examination, full-field electroretinography, and swept-source optical coherence tomography (OCT). Results: On neurologic and ophthalmologic examination, he was found to have hypermetric saccades, horizontal nystagmus, and reduced color vision bilaterally. His best-corrected visual acuity was confirmed to be 20/80 OD and 20/100 OS at the time of consultation. Initial fundus photography was most notable for bilateral hypopigmentation of the fovea. Corresponding OCT imaging demonstrated an attenuation of the ellipsoid zone, in keeping with photoreceptor loss. Conclusion: The ocular imaging results suggest that the vision loss in the presented case occurred in the context of pigmentary macular dystrophy secondary to photoreceptor dysfunction and retinal pigment epithelial degeneration. This association offers an explanation with respect to the progressive vision loss, but further analyses would be required to determine the temporal correlation of clinical symptoms with imaging abnormalities. These findings suggest that SCA1 be considered as a potential cause for vision impairment, with possible benefits of visual assessment at the time of diagnosis.

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