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  • 1
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    Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies
    Springer Science and Business Media LLC ; 2016
    In:  Scientific Reports Vol. 6, No. 1 ( 2016-06-29)
    Details
    In: Scientific Reports, Springer Science and Business Media LLC, Vol. 6, No. 1 ( 2016-06-29)
    Abstract: Inherited monogenic diseases of the retina and vitreous affect approximately 1 in 2000 individuals. They are characterized by tremendous genetic heterogeneity and clinical variability involving mutations in approximately 250 genes and more than 20 different clinical phenotypes. Clinical manifestations of retinal dystrophies (RDs) range from mild retinal dysfunctions to severe congenital forms of blindness. A detailed clinical diagnosis and the identification of causative mutations are crucial for genetic counseling of affected patients and their families, for understanding genotype-phenotype correlations and developing therapeutic approaches. Using whole exome sequencing (WES) we have established a reliable and efficient high-throughput analysis pipeline to identify disease-causing mutations. Our data indicate that this approach enables us to genetically diagnose approximately 64% of the patients (n = 58) with variant(s) in known disease-associated genes. We report 20 novel and 26 recurrent variants in genes associated with RDs. We also identified a novel phenotype for mutations in C2orf71 and provide functional evidence for exon skipping due to a splice-site variant identified in FLVCR1 . In conclusion, WES can rapidly identify variants in various families affected with different forms of RDs. Our study also expands the clinical and allelic spectrum of genes associated with RDs in the Swiss population.
    Type of Medium: Online Resource
    ISSN: 2045-2322
    URL: Article
    DOI: 10.1038/srep28755
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2016
    detail.hit.zdb_id: 2615211-3
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  • 2
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    Central Serous Chorioretinopathy – an Overview
    Georg Thieme Verlag KG ; 2021
    In:  Klinische Monatsblätter für Augenheilkunde Vol. 238, No. 09 ( 2021-09), p. 971-979
    Details
    In: Klinische Monatsblätter für Augenheilkunde, Georg Thieme Verlag KG, Vol. 238, No. 09 ( 2021-09), p. 971-979
    Abstract: Die Chorioretinopathia centralis serosa (CCS) ist durch eine seröse Abhebung der Netzhaut in der Makula charakterisiert. Es sind meist Männer zwischen 30 und 50 Jahren betroffen. Es wird eine akute Form (Krankheitsdauer kürzer als 4 – 6 Monate) von einer chronischen Form (länger als 4 – 6 Monate) unterschieden. Die Pathogenese ist multifaktoriell, es wird aktuell von einer lokalen Hyperpermeabilität der Chorioidea mit sekundären Veränderungen der Photorezeptoren und des retinalen Pigmentepithels (RPE) ausgegangen. Symptome einer akuten CCS sind ein zentrales Verschwommensehen bei häufig geringer Visusverschlechterung. Die optische Kohärenztomografie (OCT) zeigt subretinale Flüssigkeit mit oder ohne einzelne Pigmentepithelabhebungen, in der Fluoresceinangiografie (FAG) findet man meist einen Quellpunkt, die Indocyaningrünangiografie (ICG) zeigt umschriebene Areale verdickter chorioidaler Gefäße. Die akute Form kann spontan abheilen, aber auch rezidivieren und/oder in eine chronische Form übergehen. Nach Erstdiagnose zeigt sich in ca. 70 – 80% der Fälle eine spontane Remission, in ca. 50% kommt es zu einem Rezidiv. Aufgrund des guten Spontanverlaufes sollte bei Erstmanifestation in den ersten 4 – 6 Monaten zugewartet werden. Steroidtherapie gilt als Hauptrisikofaktor. Bei der chronischen Form tritt eine langsame Visusverschlechterung mit vermindertem Kontrastsehen und Farbsehen ein. Es imponieren flächige Veränderungen im RPE mit sekundären degenerativen Veränderungen der Photorezeptoren. Als Komplikation, besonders bei älteren Patienten, kann eine chorioidale Neovaskularisation (CNV) auftreten. Mögliche Therapien sind: Eine fokale Lasertherapie des in der FAG sichtbaren Quellpunktes kann mit Mikropulslaser- oder bei ausreichender Entfernung zur Fovea mit Argonlaserkoagulation behandelt werden. Bei der chronischen CCS belegen Studien, dass die photodynamische Therapie (PDT) gute Resultate zeigt. Für die Therapie mit Mineralkortikoid-Antagonisten gibt es Fallserienberichte mit einer Evidenz der Behandlung für einen Beobachtungszeitraum von 3 – 6 Monaten. Bei Vorliegen einer sekundären CNV sollte eine Anti-VEGF-Therapie erfolgen. Es ist unklar, ob dabei eine Kombinationstherapie mit PDT sinnvoll ist.
    Type of Medium: Online Resource
    ISSN: 0023-2165 , 1439-3999
    URL: Article
    DOI: 10.1055/a-1531-5605
    RVK:
    XA 10000
    Language: English
    Publisher: Georg Thieme Verlag KG
    Publication Date: 2021
    detail.hit.zdb_id: 2039754-9
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  • 3
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    Neuroprotection with rasagiline in patients with macula-off retinal detachment: A randomized controlled pilot study
    Springer Science and Business Media LLC ; 2020
    In:  Scientific Reports Vol. 10, No. 1 ( 2020-03-18)
    Details
    In: Scientific Reports, Springer Science and Business Media LLC, Vol. 10, No. 1 ( 2020-03-18)
    Abstract: We aimed to evaluate the neuroprotective efficacy of rasagiline in pseudophakic patients who had surgery for macula-off rhegmatogenous retinal detachment (RRD). This was a 6-month, prospective, randomized, double-blind, placebo-controlled pilot study. Patients presenting with acute macula-off RRD were recruited and randomized 1:1 to receive rasagiline 1 mg/day or placebo for 7 days. Best-corrected visual acuity (BCVA) and optical coherence tomography were acquired 1 day before as well as 2 days, 3 weeks, 3 months and 6 months after surgery. We screened 26 patients with RRD whereof 23 were eventually included and randomized. The primary outcome was final BCVA. Secondary outcomes included central retinal thickness (CRT) and adverse events (AE). We evaluated photoreceptor cells (prc) recovery through morphological measurements. The baseline characteristics were comparable between groups. BCVA significantly improved in both groups (letters gained: rasagiline 61.5 ± 18.1 vs placebo 55.3 ± 29.2, p = 0.56), but no significant inter-group difference was found at any visit. CRT was stable 3 weeks after surgery onwards, with no inter-group difference. No treatment-emergent AE occurred. Significant prc restoration was observed from 3 weeks to 6 months after surgery, without inter-group difference at either visit. Ellipsoid zone integrity (β = 0.517, p = 0.008) and foveal bulge (β = 0.387, p = 0.038) were significant predictors of good final BCVA. In conclusion, perioperative oral treatment with rasagiline 1 mg/day for 7 days did not show significant benefits on visual or anatomical outcomes in macula-off RRD patients.
    Type of Medium: Online Resource
    ISSN: 2045-2322
    URL: Article
    DOI: 10.1038/s41598-020-61835-0
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2020
    detail.hit.zdb_id: 2615211-3
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  • 4
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    Association of the Intestinal Microbiome with the Development of Neovascular Age-Related Macular Degeneration
    Springer Science and Business Media LLC ; 2017
    In:  Scientific Reports Vol. 7, No. 1 ( 2017-01-17)
    Details
    In: Scientific Reports, Springer Science and Business Media LLC, Vol. 7, No. 1 ( 2017-01-17)
    Abstract: Age-related macular degeneration (AMD) is the most frequent cause of blindness in the elderly. There is evidence that nutrition, inflammation and genetic risk factors play an important role in the development of AMD. Recent studies suggest that the composition of the intestinal microbiome is associated with metabolic diseases through modulation of inflammation and host metabolism. To investigate whether compositional and functional alterations of the intestinal microbiome are associated with AMD, we sequenced the gut metagenomes of patients with AMD and controls. The genera Anaerotruncus and Oscillibacter as well as Ruminococcus torques and Eubacterium ventriosum were relatively enriched in patients with AMD, whereas Bacteroides eggerthii was enriched in controls. Patient’s intestinal microbiomes were enriched in genes of the L-alanine fermentation, glutamate degradation and arginine biosynthesis pathways and decreased in genes of the fatty acid elongation pathway. These findings suggest that modifications in the intestinal microbiome are associated with AMD, inferring that this common sight threatening disease may be targeted by microbiome-altering interventions.
    Type of Medium: Online Resource
    ISSN: 2045-2322
    URL: Article
    DOI: 10.1038/srep40826
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2017
    detail.hit.zdb_id: 2615211-3
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  • 5
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    FUNDUS AUTOFLUORESCENCE LIFETIMES AND CENTRAL SEROUS CHORIORETINOPATHY
    Ovid Technologies (Wolters Kluwer Health) ; 2017
    In:  Retina Vol. 37, No. 11 ( 2017-11), p. 2151-2161
    Details
    In: Retina, Ovid Technologies (Wolters Kluwer Health), Vol. 37, No. 11 ( 2017-11), p. 2151-2161
    Abstract: To quantify retinal fluorescence lifetimes in patients with central serous chorioretinopathy (CSC) and to identify disease specific lifetime characteristics over the course of disease. Methods: Forty-seven participants were included in this study. Patients with central serous chorioretinopathy were imaged with fundus photography, fundus autofluorescence, optical coherence tomography, and fluorescence lifetime imaging ophthalmoscopy (FLIO) and compared with age-matched controls. Retinal autofluorescence was excited using a 473-nm blue laser light and emitted fluorescence light was detected in 2 distinct wavelengths channels (498–560 nm and 560–720 nm). Clinical features, mean retinal autofluorescence lifetimes, autofluorescence intensity, and corresponding optical coherence tomography (OCT) images were further analyzed. Results: Thirty-five central serous chorioretinopathy patients with a mean visual acuity of 78 ETDRS letters (range, 50–90; mean Snellen equivalent: 20/32) and 12 age-matched controls were included. In the acute stage of central serous chorioretinopathy, retinal fluorescence lifetimes were shortened by 15% and 17% in the respective wavelength channels. Multiple linear regression analysis showed that fluorescence lifetimes were significantly influenced by the disease duration ( P 〈 0.001) and accumulation of photoreceptor outer segments ( P = 0.03) but independent of the presence or absence of subretinal fluid. Prolonged central macular autofluorescence lifetimes, particularly in eyes with retinal pigment epithelial atrophy, were associated with poor visual acuity. Conclusion: This study establishes that autofluorescence lifetime changes occurring in central serous chorioretinopathy exhibit explicit patterns which can be used to estimate perturbations of the outer retinal layers with a high degree of statistical significance.
    Type of Medium: Online Resource
    ISSN: 0275-004X
    URL: Article
    DOI: 10.1097/IAE.0000000000001452
    Language: English
    Publisher: Ovid Technologies (Wolters Kluwer Health)
    Publication Date: 2017
    detail.hit.zdb_id: 2071014-8
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  • 6
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    VASCULAR ABNORMALITIES IN DIABETIC RETINOPATHY ASSESSED WITH SWEPT-SOURCE OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY WIDEFIELD IMAGING
    Ovid Technologies (Wolters Kluwer Health) ; 2019
    In:  Retina Vol. 39, No. 1 ( 2019-01), p. 79-87
    Details
    In: Retina, Ovid Technologies (Wolters Kluwer Health), Vol. 39, No. 1 ( 2019-01), p. 79-87
    Abstract: To detect vascular abnormalities in diabetic retinopathy using swept-source optical coherence tomography angiography (SS-OCTA) widefield images, and to compare the findings with color fundus photographs (CFPs) using Early Treatment Diabetic Retinopathy Study severity grading. Methods: 3 mm × 3 mm and 12 mm × 12 mm scans were acquired to cover 70° to 80° of the posterior pole using a 100-kHz SS-OCTA instrument. Two masked graders assessed the presence of vascular abnormalities on SS-OCTA and the Early Treatment Diabetic Retinopathy Study level on CFP. The grading results were then compared. Results: A total of 120 diabetic eyes (60 patients) were imaged with the SS-OCTA instrument. Cohort 1 (91 eyes; SS-OCTA grading only) showed microaneurysms in 91% (n = 83), intraretinal microvascular abnormalities in 79% (n = 72), and neovascularization in 21% (n = 19) of cases. Cohort 2 (52 eyes; CFP grading compared with SS-OCTA) showed microaneurysms on CFP in 90% (n = 47) and on SS-OCTA in 96% (n = 50) of cases. Agreement in intraretinal microvascular abnormality detection was fair (k = 0.2). Swept-source optical coherence tomography angiography detected 50% of intraretinal microvascular abnormality cases (n = 26), which were missed on CFP. Agreement in detecting neovascularization was moderate (k = 0.5). Conclusion: Agreement in detection of diabetic retinopathy features on CFP and SS-OCTA varies depending on the vascular changes examined. Swept-source optical coherence tomography angiography shows a higher detection rate of intraretinal microvascular abnormalities ( P = 0.039), compared with Early Treatment Diabetic Retinopathy Study grading.
    Type of Medium: Online Resource
    ISSN: 0275-004X
    URL: Article
    DOI: 10.1097/IAE.0000000000001938
    Language: English
    Publisher: Ovid Technologies (Wolters Kluwer Health)
    Publication Date: 2019
    detail.hit.zdb_id: 2071014-8
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  • 7
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    Absence of Genotype/Phenotype Correlations Requires Molecular Diagnostic to Ascertain Stargardt and Stargardt-Like Swiss Patients
    MDPI AG ; 2021
    In:  Genes Vol. 12, No. 6 ( 2021-05-26), p. 812-
    Details
    In: Genes, MDPI AG, Vol. 12, No. 6 ( 2021-05-26), p. 812-
    Abstract: We genetically characterized 22 Swiss patients who had been diagnosed with Stargardt disease after clinical examination. We identified in 11 patients (50%) pathogenic bi-allelic ABCA4 variants, c.1760+2T 〉 C and c.4496T 〉 C being novel. The dominantly inherited pathogenic ELOVL4 c.810C 〉 G p.(Tyr270*) and PRPH2-c.422A 〉 G p.(Tyr141Cys) variants were identified in eight (36%) and three patients (14%), respectively. All patients harboring the ELOVL4 c.810C 〉 G p.(Tyr270*) variant originated from the same small Swiss area, identifying a founder mutation. In the ABCA4 and ELOVL4 cohorts, the clinical phenotypes of “flecks”, “atrophy”, and “bull’s eye like” were observed by fundus examination. In the small number of patients harboring the pathogenic PRPH2 variant, we could observe both “flecks” and “atrophy” clinical phenotypes. The onset of disease, progression of visual acuity and clinical symptoms, inheritance patterns, fundus autofluorescence, and optical coherence tomography did not allow discrimination between the genetically heterogeneous Stargardt patients. The genetic heterogeneity observed in the relatively small Swiss population should prompt systematic genetic testing of clinically diagnosed Stargardt patients. The resulting molecular diagnostic is required to prevent potentially harmful vitamin A supplementation, to provide genetic counseling with respect to inheritance, and to schedule appropriate follow-up visits in the presence of increased risk of choroidal neovascularization.
    Type of Medium: Online Resource
    ISSN: 2073-4425
    URL: Article
    DOI: 10.3390/genes12060812
    Language: English
    Publisher: MDPI AG
    Publication Date: 2021
    detail.hit.zdb_id: 2527218-4
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  • 8
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    Optical coherence tomography angiography findings in cystoid macular degeneration associated with central serous chorioretinopathy
    BMJ ; 2019
    In:  British Journal of Ophthalmology Vol. 103, No. 11 ( 2019-11), p. 1615-1618
    Details
    In: British Journal of Ophthalmology, BMJ, Vol. 103, No. 11 ( 2019-11), p. 1615-1618
    Abstract: To describe the optical coherence tomography (OCT) characteristics and to identify and analyse the incidence of choroidal neovascular (CNV) network seen on optical coherence tomography angiography (OCTA) in eyes with cystoid macular degeneration (CMD) associated with central serous chorioretinopathy (CSCR). Methods This was a retrospective, observational study of 29 eyes of 25 patients who were previously diagnosed as CSCR with CMD. Baseline patient characteristics, best-corrected visual acuity (BCVA), evidence of CNV network and its pattern on OCTA, distribution of CMD changes and OCT parameters, such as height of the neurosensory retinal detachment (NSD), presence of double layer sign, central macular thickness, were analysed. The eyes were classified into two groups depending on the presence or absence of CNV network on OCTA. BCVA, OCT parameters and CMD distribution were compared in the two groups at baseline using independent t-test. Result A total of 13 (44.8 %) eyes had a CNV network, while only 9 out of the 13 eyes had pattern-I CNV. Among the eyes with CNV network (13 eyes), mean height of NSD was of 65.2±22.7 µ, whereas, among the eyes without CNV (16 eyes), it was 134.6±77.4 µ. The difference was statistically significant (p=0.013). There was no statistically significant difference between eye having a CNV and eyes without CNV in terms of other parameters. Conclusion A CNV network is seen in a large subset of patients with CMD in CSCR. A shallower subretinal fluid may point towards the presence of an underlying CNV network.
    Type of Medium: Online Resource
    ISSN: 0007-1161 , 1468-2079
    URL: Article
    DOI: 10.1136/bjophthalmol-2018-313048
    RVK:
    XA 10000
    Language: English
    Publisher: BMJ
    Publication Date: 2019
    detail.hit.zdb_id: 1482974-5
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  • 9
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    Multiple star systems in the Orion nebula
    EDP Sciences ; 2018
    In:  Astronomy & Astrophysics Vol. 620 ( 2018-12), p. A116-
    Details
    In: Astronomy & Astrophysics, EDP Sciences, Vol. 620 ( 2018-12), p. A116-
    Abstract: This work presents an interferometric study of the massive-binary fraction in the Orion Trapezium cluster with the recently comissioned GRAVITY instrument. We observed a total of 16 stars of mainly OB spectral type. We find three previously unknown companions for θ 1 Ori B, θ 2 Ori B, and θ 2 Ori C. We determined a separation for the previously suspected companion of NU Ori. We confirm four companions for θ 1 Ori A, θ 1 Ori C, θ 1 Ori D, and θ 2 Ori A, all with substantially improved astrometry and photometric mass estimates. We refined the orbit of the eccentric high-mass binary θ 1 Ori C and we are able to derive a new orbit for θ 1 Ori D. We find a system mass of 21.7 M ⊙ and a period of 53 days. Together with other previously detected companions seen in spectroscopy or direct imaging, eleven of the 16 high-mass stars are multiple systems. We obtain a total number of 22 companions with separations up to 600 AU. The companion fraction of the early B and O stars in our sample is about two, significantly higher than in earlier studies of mostly OB associations. The separation distribution hints toward a bimodality. Such a bimodality has been previously found in A stars, but rarely in OB binaries, which up to this point have been assumed to be mostly compact with a tail of wider companions. We also do not find a substantial population of equal-mass binaries. The observed distribution of mass ratios declines steeply with mass, and like the direct star counts, indicates that our companions follow a standard power law initial mass function. Again, this is in contrast to earlier findings of flat mass ratio distributions in OB associations. We excluded collision as a dominant formation mechanism but find no clear preference for core accretion or competitive accretion.
    Type of Medium: Online Resource
    ISSN: 0004-6361 , 1432-0746
    URL: Article
    DOI: 10.1051/0004-6361/201833575
    RVK:
    UA 1000
    RVK:
    US 1090
    Language: English
    Publisher: EDP Sciences
    Publication Date: 2018
    detail.hit.zdb_id: 1458466-9
    SSG: 16,12
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  • 10
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    Retinal artery occlusion is associated with compositional and functional shifts in the gut microbiome and altered trimethylamine-N-oxide levels
    Springer Science and Business Media LLC ; 2019
    In:  Scientific Reports Vol. 9, No. 1 ( 2019-10-25)
    Details
    In: Scientific Reports, Springer Science and Business Media LLC, Vol. 9, No. 1 ( 2019-10-25)
    Abstract: Retinal artery occlusion (RAO) is a sight threatening complication of cardiovascular disease and commonly occurs due to underlying atherosclerosis. As cardiovascular disease and atherosclerosis in particular has been associated with compositional alterations in the gut microbiome, we investigated this association in patients with clinically confirmed non-arteritic RAO compared to age- and sex-matched controls. On the phylum level, the relative abundance of Bacteroidetes was decreased in patients with RAO compared to controls, whereas the opposite applied for the phylum of Proteobacteria . Several genera and species such as Actinobacter , Bifidobacterium spp ., Bacteroides stercoris , Faecalibacterium prausnitzii were relatively enriched in patients with RAO, whereas others such as Odoribacter , Parasutterella or Lachnospiraceae were significantly lower. Patient’s gut microbiomes were enriched in genes of the cholesterol metabolism pathway. The gut derived, pro-atherogenic metabolite trimethylamine-N-oxide (TMAO) was significantly higher in patients with RAO compared to controls (p = 0.023) and a negative correlation between relative abundances of genera Parasutterella and Lachnospiraceae and TMAO levels and a positive correlation between relative abundance of genus Akkermansia and TMAO levels was found in study subjects. Our findings proposes that RAO is associated with alterations in the gut microbiome and with elevated TMAO levels, suggesting that RAO could be targeted by microbiome-altering interventions.
    Type of Medium: Online Resource
    ISSN: 2045-2322
    URL: Article
    DOI: 10.1038/s41598-019-51698-5
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2019
    detail.hit.zdb_id: 2615211-3
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