bluuebunny/crossref_metadata_2025_split huggingface dataset:
Pigment epithelium detachment treated with sildenafil: a case report
Authors: Cellini Mauro , Tassi Filippo , Finzi Alessandro , Roda Matilde , Schiavi Costantino 
Published: January 2022

AbstractPurposeCentral serous chorioretinopathy (CSCR) is a pathology of the retina that can be complicated by the appearance of a serous detachment of the pigment epithelium (PED). The exact molecular mechanisms of CSCR have remained uncertain as well as there is no effective medical therapy. We found it interesting to describe a case of CSCR with PED treated with Sildenafil.Case Report53‐year‐old male suffering from chronic CSCR with PED probably resulting from psychological stress and type A personality presented himself for an eye examination stating that he noticed an improvement in visual acuity and metamorphopsia after a daily intake of 15 mg of sildenafil tablets. The patient underwent fluorescein angiography (FA), indocyanine angiography (ICG), Optical coherence tomography angiography (OCTA) and Optical coherence tomography (OCT). The tests showed a resolution of the serous detachment of the neuroepithelium and pigment epithelium with residual dystrophy of the retinal pigment epithelium.ConclusionsSeveral oral medications have been proposed for the treatment of CSCR based on the putative inhibition of different pathogenic pathways. Recently mineralocorticoid receptors antagonists were proposed as a treatment for CSCR patients with persistent subretinal fluid and the results seem encouraging. We believe that in our case the resolution of the clinical picture is due to the improvement of the choroidal vascular picture and in particular of the endothelial function of the choroidal vessels. Recent studies have shown that Phosphodiesterase type 5 (PDE‐5) inhibitors (i.e. sildenafil) have been implicated in improving endothelial function and that this would be at the basis of the vasodilation induced by these molecules.
ET‐1 plasma levels and scleral rigidity as risk factors in neovascular age‐related macular degeneration
Authors: Cellini Mauro , Finzi Alessandro , Corcioni Beniamino , Roda Matilde , Gaudiano Caterina , Golfieri Rita , Schiavi Costantino 
Published: January 2022

AbstractPurposeTo study the ocular blood flow, the corneal biomechanics, the scleral rigidity and the endothelin‐1 (ET‐1) plasma levels in patients with neovascular age‐related macular degeneration (ARMD).MethodsWe enrolled 20 patients with ARMD and 20 age‐matched control patients. Retrobulbar blood flow was examined by Colour Doppler Aplio 500 (Toshiba Medical System, Tokyo, Japan). Peak systolic velocity (PSV) and resistivity index (RI) was measured from ophthalmic artery (OA), central retinal artery (CRA) and posterior ciliary arteries (PCA’s). The corneal hysteresis CH and the corneal resistance force (CRF) values were achieved by Ocular Response Analyzer (ORA). Scleral rigidity (E) was determined by using Friedenwald nomograms. ET‐1 plasma levels were determined using a specific radioimmunoassay (Sigma‐Aldrich, Merck, Germany).ResultsWe found a statistically significant difference in the CRF between patients with ARMD and control subjects (ARMD 11.23 ± 1.30 vs. Controls 9.82 ± 1.37; p<0.0025) was found. The CH index between patients with ARMD and control subjects was not statistically significant (ARMD 10.15 ± 1.25 vs. Controls 10.02 ± 1.70; p<0.617). With CDI in PCA’s we found PSV (ARMD 12.37 ± 2.80 cm/sec vs. Controls 15.44 ± 3.59 cm/sec; p<0.0063); RI (ARMD 0.80 ± 0.03 vs Controls 0.74 ± 0.02; p<0.0001). The E had a significant increase in ARMD group (ARMD 0.0358 ± 0.004 vs. Controls 0.0328 ± 0.004; p<0.008) as well as ET‐1 plasma levels (ARMD 2.060 ± 0.276 vs. Controls 1.492 ± 0.0.560; p<0.001). Finally, in ARMD we found that the decrease of PSV and the increase of RI in PCA’s was correlated with the ET‐1 plasma levels (PSV r‐0.615; p<0.0039 and r 0.764; p<0.0001) and not with the values of E, CH and CRF.ConclusionsOur data indicate that patients with neovascular ARMD had a significant increase of RI in all vessels examined with increased corneal CRF index, scleral rigidity values and ET‐1 plasma levels. The decreased blood flow in APC’s was correlated to the increase of ET‐1 plasma levels. These data indicate that elevated plasma ET‐1 and not the scleral rigidity may be an important risk factor in the development of neovascular ARMD.
Multimodal imaging of a choroidal macrovessel
Authors: Hela Sassi , Meriem Ouederni , Nouri Slim , Fehmy Nafaa , Maamouri Rym , Monia Cheour 
Published: January 2022

AbstractPurposeTo describe the features of a choroidal macrovessel (CM) in multimodal imaging and underline the importance of non‐invasive imaging techniques.MethodsA 78‐year‐old man presented to our department for alteration of central vision of the right eye after uneventful cataract surgery. The patient had a complete ophthalmic examination with best corrected visual acuity (BCVA) measurement and slit lamp examination. Multimodal imaging was performed including fundus autofluorescence (FAF), Swept‐Source Optical Coherence Tomography (SS‐OCT), en‐face OCT, OCT‐angiography, Fluorescein Angiography (FA) and Indocyanine Angiography (ICG‐A).ResultsBCVA was 20/50 in the right eye and 20/80 in the left eye. Anterior segment examination was unremarkable except for a nuclear cataract in the left eye. Funduscopic examination showed a subretinal tortuous lesion starting in the fovea and extending toward the temporal periphery in the right eye and was normal in the left eye. FAF of the right eye showed increased autofluorescence of the lesion retracing its serpiginous shape. SS‐OCT revealed a choroidal hollowness. This lesion had a pattern corresponding to a choroidal macrovessel on en‐face OCT scans with a similar signal to the physiological choroidal vessels. OCT‐A showed a low signal within the choroidal vessel. FA of the right eye showed an early serpentine‐shaped hyperfluorescence and ICG‐A revealed early prominent filling with late hypofluorescence and persisting laminar flow. A choroidal macrovessel (CM) was diagnosed.ConclusionsCM is a rare entity that is not always easy to recognize. ICGA is the most valuable tool for its diagnosis when the presentation is not typical. In cases of CM with a well delineated pattern, non‐invasive imaging modalities and particularly SS‐OCT and en‐face OCT can be very helpful for the diagnosis while avoiding dye injection.
Microglia activation and cone disruption are the main alterations in the retina of human donors with COVID‐19
Authors: Albertos‐Arranz Henar , Sánchez‐Sáez Xavier , Martínez‐Gil Natalia , Noailles Gil Agustina , Calvo Andrés Ramón , Monferrer Adsuara Clara , Remoli Sargues Lidia , Montero Hernández Javier , Cuenca Nicolás 
Published: January 2022

AbstractPurposeThe presence of SARS‐CoV‐2 in the eye and different alterations in the ocular tissues have been described. However, the health state of the retinal cells in these patients is unknown. The aim was to analyze the morphology of the retinal cells and glial activation in human donor deceased by COVID‐19.MethodsRetinas from human donors with COVID‐19 (n = 9) and from a group control (n = 5) were analyzed. Samples were obtained from the General University Hospital Consortium of Valencia. Photoreceptors, Müller cells, astrocytes, microglia and retinal blood vessels and the location of ACE2 protein were studied through immunohistochemistry staining in cross‐sections and wholemount retinas (using calbindin, recoverin, GFAP, CRALBP and Collagen Type IV, Iba‐1 and ACE2). Confocal microscopy and a quantitative analysis of Iba‐1 positive cells were performed.ResultsThe mean age of COVID‐19 and control group was 77 ± 11 and 68 ± 7 years, respectively. Müller cells, retinal pigment epithelium and outer segment of photoreceptors showed ACE2 immunostaining. The staining of ACE2 protein in the outer segment of photoreceptors was weaker in some COVID‐19 patients. Several patients presented a swelling of the axon terminal of cone photoreceptors and disruptions in the structure of Müller cells. The ramified resident microglial cells changed to an ameboid shape and most of these cells migrated to the retinal vessels. Moreover, the microglia activation in the retina of COVID‐19 patients was confirmed by a reduction of the total area occupied by these cells.ConclusionsMorphological alterations in the cone photoreceptors and Müller cells, variations in the staining of ACE2 protein and microglia activation was found in human donor retinas with COVID‐19. Support: FEDER‐PID2019‐106230RB‐I00. FPU16/04114, FPU18/02964. RETICS‐FEDER RD16/0008/0016. Retina Asturias/Cantabria. FARPE‐FUNDALUCE. IDIFEDER/2017/064.
Different patterns of autofluorescence within the same family in carriers of a novel choroideremia mutation
Authors: Dolores Díaz‐Barreda Mª , Boned‐Murillo Ana , Bakkali El Bakkali Ismael , Pérez Rivasés Guillermo , Orejudo deRivas Marta , Josefina Núñez Moscarda Eva , Cisneros Pablo , Ascaso Francisco , Bartolome Isabel , Pinilla Isabel 
Published: January 2022

AbstractPurposeChoroideremia (CHM) is a rare retinal dystrophy. It affects both the retina (retinal pigment epithelium (RPE) and outer retina) and the choroidal layers. It is inherited X‐linked and therefore affects all males with a theoretical penetrance of 100%. Female carriers, due to the phenomenon of lionisation may be asymptomatic or suffer from the disease in a similar way to males. On examination, they may have changes in pigment distribution and autofluorescence (AF) changes. They may also have some degree of retinal dysfunction.MethodsWe report a family with two cousins affected by CHM and their carrier mothers. After the diagnosis of an 11‐year‐old male, a complete ophthalmological examination including optical coherence tomography (OCT), microperimetry (MAIA) and AF was performed on all family members. A genetic study was conducted on those cases suggestive of CHM. One other case (a 10‐year‐old cousin) and two carriers, the mothers of the two confirmed cases, were identified. The sisters were not affected.ResultsAll four showed an undescribed mutation in the CHM gene c.1083_1084dupT (p.L362Sfs*56) at location Xp21.2. AF findings were different in both carriers, with a fine speckle pattern on the periphery in one of them and a course and geographic pattern shown low‐density peripapillary pattern and coarse mottled on periphery in the other one. Both affected males showed a clear decrease in the AF pattern with a geographic central persistence (male pattern). During the evolution, one of the patients showed a more aggressive form than the other, which could be justified by the concomitant high myopia in this case. The AF of the carriers remained similar.ConclusionsConsidering that AF is a non‐invasive, fast and accessible test, could serve to diagnose both patients and carriers of CHM. In addition, the pattern of AF in carriers may be different in members of the same family despite having the same mutation.
Comparison of diabetic retinopathy lesions identified using ultrawide field color photography, ultrawide field fluorescein angiography and optical coherence tomography angiography
Authors: Salongcay Recivall , Anne Aquino Lizzie , Michael Salva Claude , Peto Tunde , Silva Paolo S. 
Published: January 2022

AbstractPurposeTo determine the correlation of diabetic retinopathy (DR) findings identified on ultrawide field (UWF) color photos, ultrawide field fluorescein angiograms (UWF‐FA) and optical coherence tomography (OCT) angiograms (OCTA).MethodsThis was a cross‐sectional study. Images taken on the same visit were prospectively collected from adult patients with diabetes at a tertiary center in the Philippines. Patients underwent imaging with UWF and UWF‐FA (Optos plc, Dunfermline, Scotland, UK), and OCT with OCTA (Carl Zeiss Meditec Inc, Dublin, CA, USA). Images were evaluated for the presence of DR lesions and center‐involving diabetic macular edema (ciDME). Ischemia was identified on UWF‐FA using Image J Fiji software (National Institutes of Health, Bethesda, MD, USA) and nonperfusion index (NPI) was determined using previously validated protocols. Automated measurements of the macular vessel density (VD), vessel perfusion (VP) and foveal avascular zone (FAZ) metrics were obtained on OCTA.ResultsImages from 69 eyes were included in the analysis. Increasing DR severity was associated with higher NPI (r = 0.55944, p < 0.001) and remained significant after distinguishing between cones (Cone Nonperfusion Index [CPI]: r = 0.55617, p < 0.0001) and rods (Rod Nonperfusion Index [RPI]: r = 0.55285, p < 0.0001). In eyes with NPDR, higher NPI is correlated with the presence of ciDME (r = 0.51156, p 0.0017). Furthermore, macular nonperfusion on UWF‐FA was correlated with higher NPI (r = 0.42899, p 0.0101), CPI (r = 0.50028, p 0.0022) and RPI (r = 0.49027, p 0.0028). Central VD and VP were correlated with the presence of ciDME (r = 0.52456, p < 0.0001; r = 0.51952, p < 0.0001) on OCT. A larger FAZ area was correlated with decreased central VD (r = −0.60089, p 0.0001) and decreased central VP (r = −0.59224, p 0.0001).ConclusionsThe collective findings of UWF, UWF‐FA and OCTA provide complementary information on diabetic eyes, and may offer insights on the pathogenesis and progression of DR.
The degradation of mutant RhodopsinIle256del follows the VCP‐dependent endoplasmic‐reticulum‐associated protein degradation pathway
Authors: Cao Bowen , Sen Merve , Beyer Tina , Leonhard Tobias , Williamson Sally , Cristina Almansa Garcia Ana , Bolz Sylvia , Arango Gonzalez Blanca , Ueffing Marius 
Published: January 2022

AbstractPurposeIn Europe, the Rholle256del mutation (deletion of isoleucine at position 255 or 256 in Rho gene) accounts for over 17% of familial ADRP cases (C. F. Inglehearn, 1991). From a clinical perspective, the severity of this mutation can be compared to RhoP23H. In previous studies, we found that the degeneration of misfolded RHOP23H follows the ERAD pathway and the clearance of RHOP23H requires the ERAD effector valosin‐containing protein (VCP). This study aims to characterize the subcellular structural and functional changes in Rholle256del transfected mammalian cells, evaluate VCP inhibition's effects, and understand the pathological similarity between Rholle256del and RhoP23H transfected cells.MethodsHEK293 and COS‐7 cells were transfected with plasmids encoding RhoWT, Rholle256del, or RhoP23H, tagged with GFP. Immunostaining was performed to reveal the localization of transfected RHO‐GFP and the co‐localization between RHO‐GFP with ER, endogenous VCP, ubiquitin, and proteasome subunit (PSMB5). Formation and degree of Rho protein aggregates were analyzed in transfected cells before and after proteasome‐ and VCP‐inhibition.ResultsWe found that RHOWT mainly localizes at the plasma membrane, while mutant RHOlle256del and RHOP23H accumulates in the cytosol forming cytoplasmic aggregates. Co‐staining results suggest that both RHOlle256del and RHOP23H aggregates are retained within the ER, partially co‐localizing with VCP. RHOlle256del and RHOP23H aggregates were ubiquitinated and partially transported to the proteasome system for degradation. VCP inhibition led to enhanced accumulation of high molecular weight (HMW) RHO‐containing oligomers and aggregates.ConclusionsOur results indicate similar clearance characteristics between Rholle256del and RhoP23H in transfected cells, including the excessive formation of misfolded RHO aggregates, retention in the ER, and, at least partially, interaction with VCP. Moreover, VCP inhibition affects the abundance of RHO aggregates. This suggests that the clearance of RHOlle256del also follows the VCP/ERAD/proteasome axis, raising a possibility that modulation of VCP could be considered as a potential therapy for Rholle256del‐related RP as well.
Comparison of systemic and topical isotretinoin in the treatment of facial lichen planopilaris: A randomized controlled trial
Authors: Saber Mina , Bahraminejad Mahsa , Fatemi Naeini Farahnaz , Mohaghegh Fatemeh , Faghihi Gita , Hosseini Sayed Mohsen 
Published: January 2022

AbstractBackgroundFacial papules reflecting the lichenoid inflammation of facial vellus hair follicles can occur in the backgrounds of frontal fibrosing alopecia, lichen planopilaris (LPP), or even alone. In the present study, we aimed to compare systemic and topical isotretinoin in the treatment of facial LPP.MethodIn a prospective randomized trial, 26 patients with facial LPP were randomly allocated to receive either 20 mg/day oral isotretinoin or isotretinoin 0.05% gel every night for 6 months. Global Aesthetic Improvement Scale (GAIS) and patient's satisfaction questionnaire were used at 1, 3, and 6 months after treatment to evaluate the outcomes.ResultsIn both oral and topical isotretinoin groups, facial papules were significantly improved at all follow‐up visits, resulting in statistically significant improvements (p = 0.005 and p = 0.007, respectively, for oral and topical groups) in GAIS score mean difference from month 1 to month 6. Overall levels of patient satisfaction were high in both groups, and no significant difference was observed between two groups (p = 0.107). However, the mean GAIS score at 3 and 6 months after treatment showed significantly greater improvements in oral isotretinoin group compared to topical group (1.85 ± 0.62 vs. 1.03 ± 0.49 at month 3, p = 0.004; 2.45 ± 54 vs. 1.59 ± 0.62 at month 6, p = 0.008). Overall, patients could well tolerate the treatments; however, topical therapy was associated with fewer side effects.DiscussionBoth oral and topical isotretinoin were found to be effective in improving facial papules; however, oral isotretinoin was significantly more efficacious. Considering safety profile of topical isotretinoin, it can be administrated as maintenance therapy for patients with facial LPP.
Gender‐affirming hormone therapy: An updated literature review with an eye on the future
Authors: D'hoore Laurens , T'Sjoen Guy 
Published: January 2022

AbstractIn line with increasing numbers of transgender (trans) and gender nonbinary people requesting hormone treatment, the body of available research is expanding. More clinical research groups are presenting data, and the numbers of participants in these studies are rising. Many previous review papers have focused on all available data, as these were scarce, but a more recent literature review is timely. Hormonal regimens have changed over time, and older data may be less relevant for today's practice. In recent literature, we have found that even though mental health problems are more prevalent in trans people compared to cisgender people, less psychological difficulties occur, and life satisfaction increases with gender‐affirming hormone treatment (GAHT) for those who feel this is a necessity. With GAHT, body composition and contours change towards the affirmed sex. Studies in bone health are reassuring, but special attention is needed for adolescent and adult trans women, aiming at adequate dosage of hormonal supplementation and stimulating therapy compliance. Existing epidemiological data suggest that the use of (certain) estrogens in trans women induces an increased risk of myocardial infarction and stroke, the reason that lifestyle management can be an integral part of trans health care. The observed cancer risk in trans people does not exceed the known cancer‐risk differences between men and women. Now it is time to integrate the mostly reassuring data, to leave the overly cautious approach behind, to not copy the same research questions repeatedly, and to focus on longer follow‐up data with larger cohorts.
Changes in eicosapentaenoic acid and docosahexaenoic acid and risk of cardiovascular events and atrial fibrillation: A secondary analysis of the OMEMI trial
Authors: Myhre Peder L. , Kalstad Are A. , Tveit Sjur H. , Laake Kristian , Schmidt Erik B. , Smith Pal , Nilsen Dennis W.T. , Tveit Arnljot , Solheim Svein , Arnesen Harald , Seljeflot Ingebjørg 
Published: January 2022

AbstractBackgroundThe cardiovascular benefit from n‐3 polyunsaturated fatty acids (PUFAs) after acute myocardial infarction (AMI) is controversial, and the importance of serum eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA) concentrations for clinical events is unclear.ObjectivesTo assess changes in EPA and DHA serum concentrations during n‐3 PUFA supplementation and their association with incident cardiovascular events.MethodsIn the OMEMI trial, elderly patients with a recent AMI were randomized to 1.8 g/day of EPA/DHA or control (corn oil) for 2 years. The primary outcome was a composite of AMI, coronary revascularization, stroke, heart failure hospitalization, or all‐cause death (major adverse cardiovascular event [MACE]) and the secondary outcome was new‐onset atrial fibrillation (AF).ResultsEPA and DHA measurements were available in 881 (92% of survivors) participants at randomization and study completion. EPA and DHA increased in the active treatment arm (n = 438) by a median of 87% and 16%, respectively. Greater on‐treatment increases in EPA and DHA were associated with decreasing triglycerides, increasing high‐density lipoprotein cholesterol, and lower baseline EPA and DHA concentrations. Greater on‐treatment increases in EPA were associated with lower risk of MACE (adjusted hazard ratio 0.86 [95% confidence interval, CI, 0.75–0.99], p = 0.034), and higher risk of AF (adjusted hazard ratio (HR) 1.36 [95% CI 1.07–1.72], p = 0.011). Although there were similar tendencies for DHA changes and outcomes, these associations were not statistically significant (HR 0.84 [0.66–1.06] for MACE and 1.39 [0.90–2.13] for AF).ConclusionGreater on‐treatment increases in EPA were associated with lower risk of MACE and higher risk of new‐onset AF. These data suggest that the cardiovascular effects of increasing n‐3 PUFA levels through supplements are complex, involving both potential benefits and harm.