-
Orphanet Journal of Rare Diseases Jun 2024Biallelic pathogenic variants in USH2A lead to Usher syndrome or non-syndromic retinitis pigmentosa, and shown to have geographical and ethnical distribution in previous...
BACKGROUND
Biallelic pathogenic variants in USH2A lead to Usher syndrome or non-syndromic retinitis pigmentosa, and shown to have geographical and ethnical distribution in previous studies. This study provided a deeper understanding of the detailed clinical features using multimodal imaging, genetic spectrum, and genotype-phenotype correlations of USH2A-related retinal dystrophies in Taiwan.
RESULTS
In our cohort, the mean age at first visit was 47.66 ± 13.54 years, and the mean age at symptom onset, which was referred to the onset of nyctalopia and/or visual field constriction, was 31.21 ± 15.24 years. Among the variants identified, 23 (50%) were missense, 10 (22%) were splicing variants, 8 (17%) were nonsense, and 5 (11%) were frameshift mutations. The most predominant variant was c.2802T>G, which accounted for 21% of patients, and was located in exon 13. Patients with truncated alleles had significantly earlier symptom onset and seemly poorer disease progression regarding visual acuity, ellipsoid zone line length, and hypofluorescent lesions in the macula than those who had the complete gene. However, the clinical presentation revealed similar progression between patients with and without the c.2802T>G variant. During long-term follow-up, the patients had different ellipsoid zone line progression rates and were almost evenly distributed in the fast, moderate, and slow progression subgroups. Although a younger onset age and a smaller baseline intact macular area was observed in the fast progression subgroup, the results showed no significant difference.
CONCLUSIONS
This is the first cohort study to provide detailed genetic and longitudinal clinical analyses of patients with USH2A-related retinal dystrophies in Taiwan. The mutated allele frequency in exon 13 was high in Taiwan due to the predominant c.2802T>G variant. Moreover, truncated variants greatly impacted disease progression and determined the length of therapeutic windows. These findings provide insight into the characteristics of candidates for future gene therapies.
Topics: Humans; Middle Aged; Taiwan; Male; Extracellular Matrix Proteins; Female; Adult; Retinal Dystrophies; Exons; Usher Syndromes; Prevalence; Young Adult; Aged
PubMed: 38879497
DOI: 10.1186/s13023-024-03238-2 -
International Journal of Retina and... Jun 2024Diabetic retinopathy (DR) stands as the foremost cause of preventable blindness in adults. Despite efforts to expand DR screening coverage in the Brazilian public...
BACKGROUND
Diabetic retinopathy (DR) stands as the foremost cause of preventable blindness in adults. Despite efforts to expand DR screening coverage in the Brazilian public healthcare system, challenges persist due to various factors including social, medical, and financial constraints. Our objective was to evaluate the quality of images obtained with the AirDoc, a novel device, compared to Eyer portable camera which has already been clinically validated.
METHODS
Images were captured by two portable retinal devices: AirDoc and Eyer. The included patients had their fundus images obtained in a screening program conducted in Blumenau, Santa Catarina. Two retina specialists independently assessed image's quality. A comparison was performed between both devices regarding image quality and the presence of artifacts.
RESULTS
The analysis included 129 patients (mean age of 61 years), with 29 (43.28%) male and an average disease duration of 11.1 ± 8 years. In Ardoc, 21 (16.28%) images were classified as poor quality, with 88 (68%) presenting artifacts; in Eyer, 4 (3.1%) images were classified as poor quality, with 94 (72.87%) presenting artifacts.
CONCLUSIONS
Although both Eyer and AirDoc devices show potential as screening tools, the AirDoc images displayed higher rates of ungradable and low-quality images, that may directly affect the DR and DME grading. We must acknowledge the limitations of our study, including the relatively small sample size. Therefore, the interpretations of our analyses should be approached with caution, and further investigations with larger patient cohorts are warranted to validate our findings.
PubMed: 38877585
DOI: 10.1186/s40942-024-00559-z -
BMC Ophthalmology Jun 2024To investigate the utility of point of care screening of diabetic retinopathy (DR) and the impact of a telemedicine program to overcome current challenges.
OBJECTIVE
To investigate the utility of point of care screening of diabetic retinopathy (DR) and the impact of a telemedicine program to overcome current challenges.
METHODS
This was a retrospective study on people with type 2 diabetes mellitus (T2DM) who were screened for DR using the single-field non-mydriatic fundus photography at the point of care during routine follow-up visits at endocrinology clinic. Retinal images were uploaded and sent to a retina specialist for review. Reports indicating retinopathy status and the need for direct retinal examination were transmitted back to the endocrinology clinic. All patients were informed about DR status and, if needed, referred to the retina specialist for direct retinal examination.
RESULTS
Of the 1159 individuals screened for DR, 417 persons (35.98%) were screen-positive and referred to the retina specialist for direct retinal examination. A total of 121 individuals (29.01%) underwent direct retinal examination by the specialist. Diabetes macular edema (DME) was detected in 12.1%. In addition, non-proliferative diabetic retinopathy (NPDR) and proliferative diabetic retinopathy (PDR) were detected in 53.4% and 2.6% of the patients, respectively.
CONCLUSION
Integrating DR screening program at the point of care at the secondary care services improves the rate of DR screening as well as detection of sight threatening retinopathy and provides the opportunity for timely intervention in order to prevent advanced retinopathy in people with T2DM.
Topics: Humans; Diabetic Retinopathy; Retrospective Studies; Telemedicine; Female; Male; Middle Aged; Diabetes Mellitus, Type 2; Aged; Mass Screening; Point-of-Care Systems; Adult
PubMed: 38877501
DOI: 10.1186/s12886-024-03508-4 -
Scientific Reports Jun 2024While perceiving the emotional state of others may be crucial for our behavior even when this information is present outside of central vision, emotion perception...
While perceiving the emotional state of others may be crucial for our behavior even when this information is present outside of central vision, emotion perception studies typically focus on central visual field. We have recently investigated emotional valence (pleasantness) perception across the parafovea (≤ 4°) and found that for briefly presented (200 ms) emotional face images (from the established KDEF image-set), positive (happy) valence was the least affected by eccentricity (distance from the central visual field) and negative (fearful) valence the most. Furthermore, we found that performance at 2° predicted performance at 4°. Here we tested (n = 37) whether these effects replicate with face stimuli of different identities from a different well-established image-set (NimStim). All our prior findings replicated and eccentricity-based modulation magnitude was smaller with NimStim (~ 16.6% accuracy reduction at 4°) than with KDEF stimuli (~ 27.3% reduction). Our current investigations support our earlier findings that for briefly presented parafoveal stimuli, positive and negative valence perception are differently affected by eccentricity and may be dissociated. Furthermore, our results highlight the importance of investigating emotions beyond central vision and demonstrate commonalities and differences across different image sets in the parafovea, emphasizing the contribution of replication studies to substantiate our knowledge about perceptual mechanisms.
Topics: Humans; Male; Female; Adult; Young Adult; Emotions; Visual Fields; Facial Expression; Photic Stimulation; Facial Recognition; Fovea Centralis; Visual Perception; Adolescent
PubMed: 38877079
DOI: 10.1038/s41598-024-63724-2 -
Lancet (London, England) Jun 2024Neovascular age-related macular degeneration (nAMD) is a leading cause of blindness. The first-line therapy is anti-vascular endothelial growth factor (anti-VEGF) agents...
BACKGROUND
Neovascular age-related macular degeneration (nAMD) is a leading cause of blindness. The first-line therapy is anti-vascular endothelial growth factor (anti-VEGF) agents delivered by intravitreal injection. Ionising radiation mitigates key pathogenic processes underlying nAMD, and therefore has therapeutic potential. STAR aimed to assess whether stereotactic radiotherapy (SRT) reduces the number of anti-VEGF injections required, without sacrificing visual acuity.
METHODS
This pivotal, randomised, double-masked, sham-controlled trial enrolled participants with pretreated chronic active nAMD from 30 UK hospitals. Participants were randomly allocated in a 2:1 ratio to 16-Gray (Gy) SRT delivered using a robotically controlled device or sham SRT, stratified by treatment centre. Eligible participants were aged 50 years or older and had chronic active nAMD, with at least three previous anti-VEGF injections, including at least one in the last 4 months. Participants and all trial and image reading centre staff were masked to treatment allocation, except one unmasked statistician. The primary outcome was the number of intravitreal ranibizumab injections required over 2 years, tested for superiority (fewer injections). The main secondary outcome was Early Treatment Diabetic Retinopathy Study visual acuity at two years, tested for non-inferiority (five-letter margin). The primary analysis used the intention-to-treat principle, and safety was analysed per-protocol on participants with available data. The study is registered with ClinicalTrials.gov (NCT02243878) and is closed for recruitment.
FINDINGS
411 participants enrolled between Jan 1, 2015, and Dec 27, 2019, and 274 were randomly allocated to the 16-Gy SRT group and 137 to the sham SRT group. 240 (58%) of all participants were female, and 171 (42%) of all participants were male. 241 participants in the 16-Gy SRT group and 118 participants in the sham group were included in the final analysis, and 409 patients were treated and formed the safety population, of whom two patients allocated to sham treatment erroneously received 16-Gy SRT. The SRT group received a mean of 10·7 injections (SD 6·3) over 2 years versus 13·3 injections (5·8) with sham, a reduction of 2·9 injections after adjusting for treatment centre (95% CI -4·2 to -1·6, p<0·0001). The SRT group best-corrected visual acuity change was non-inferior to sham (adjusted mean letter loss difference between groups, -1·7 letters [95% CI -4·2 to 0·8]). Adverse event rates were similar across groups, but reading centre-detected microvascular abnormalities occurred in 77 SRT-treated eyes (35%) and 13 (12%) sham-treated eyes. Overall, eyes with microvascular abnormalities tended to have better best-corrected visual acuity than those without. Fewer ranibizumab injections offset the cost of SRT, saving a mean of £565 per participant (95% CI -332 to 1483).
INTERPRETATION
SRT can reduce ranibizumab treatment burden without compromising vision.
FUNDING
Medical Research Council and National Institute for Health and Care Research Efficacy and Mechanism Evaluation Programme.
PubMed: 38876132
DOI: 10.1016/S0140-6736(24)00687-1 -
International Journal of Surgery Case... Jun 2024Purtscher retinopathy is the rare form of occlusive microvasculopathy, characterized by multiple retinal white areas around the optic nerve head and fovea with...
INTRODUCTION AND IMPORTANCE
Purtscher retinopathy is the rare form of occlusive microvasculopathy, characterized by multiple retinal white areas around the optic nerve head and fovea with paravascular clearing and may be related to intraretinal hemorrhages. Acute Pancreatitis (AP) is one of the most common gastrointestinal reasons for hospital admissions globally. The complications of Acute Pancreatitis may include Purtscher's-like retinopathy, which has a low incidence rate of less than 0.24 instances per million cases. This case report highlights the value of thorough medical history taking and examination, and it apprises the consideration of ophthalmological manifestation in patients of Acute Pancreatitis.
CASE PRESENTATION
A 34-year-old female came to the emergency room due to intense abdominal pain associated with nausea and vomiting, which worsened over the last 24 h. The pain was described as continuous, sharp, and cramping-like in the upper abdomen, radiating to the back. Lab tests revealed elevated serum amylase and lipase levels, indicating pancreatitis, along with slight leukocytosis. A contrast-enhanced CT scan confirmed acute pancreatitis with mild inflammation and enlargement of the pancreas. Two days after admission, the patient experienced a sudden and painless loss of central vision in both eyes. There was no history of trauma or any other significant relevant history, other than pancreatitis. The ophthalmologist's examination found reduced visual acuity (6/60 in the right eye, 3/60 in the left eye), normal corneas, and anterior chambers.
DISCUSSION
Inkeles and Walsh established the first link between acute pancreatitis and Purtscher-like retinopathy when they reported three cases of the distinctive retinal appearance in individuals with acute pancreatitis in 1975.
CONCLUSION
The recovery and prognosis in cases of Purtscher-like retinopathy is variable and further research is required to ascertain the usage of corticosteroids and pentoxifylline in improving the course of a patient's with Purtscher's-like retinopathy.
PubMed: 38875828
DOI: 10.1016/j.ijscr.2024.109881 -
Translational Vision Science &... Jun 2024The subsidence of the outer plexiform layer (OPL) is an important imaging biomarker on optical coherence tomography (OCT) associated with early outer retinal atrophy and...
PURPOSE
The subsidence of the outer plexiform layer (OPL) is an important imaging biomarker on optical coherence tomography (OCT) associated with early outer retinal atrophy and a risk factor for progression to geographic atrophy in patients with intermediate age-related macular degeneration (AMD). Deep neural networks (DNNs) for OCT can support automated detection and localization of this biomarker.
METHODS
The method predicts potential OPL subsidence locations on retinal OCTs. A detection module (DM) infers bounding boxes around subsidences with a likelihood score, and a classification module (CM) assesses subsidence presence at the B-scan level. Overlapping boxes between B-scans are combined and scored by the product of the DM and CM predictions. The volume-wise score is the maximum prediction across all B-scans. One development and one independent external data set were used with 140 and 26 patients with AMD, respectively.
RESULTS
The system detected more than 85% of OPL subsidences with less than one false-positive (FP)/scan. The average area under the curve was 0.94 ± 0.03 for volume-level detection. Similar or better performance was achieved on the independent external data set.
CONCLUSIONS
DNN systems can efficiently perform automated retinal layer subsidence detection in retinal OCT images. In particular, the proposed DNN system detects OPL subsidence with high sensitivity and a very limited number of FP detections.
TRANSLATIONAL RELEVANCE
DNNs enable objective identification of early signs associated with high risk of progression to the atrophic late stage of AMD, ideally suited for screening and assessing the efficacy of the interventions aiming to slow disease progression.
Topics: Humans; Tomography, Optical Coherence; Aged; Female; Neural Networks, Computer; Male; Macular Degeneration; Geographic Atrophy; Disease Progression; Retina; Middle Aged; Aged, 80 and over
PubMed: 38874975
DOI: 10.1167/tvst.13.6.7 -
Translational Vision Science &... Jun 2024Both hypertension and diabetes are known to increase the wall-to-lumen ratio (WLR) of retinal arterioles, but the differential effects are unknown. Here, we study the...
PURPOSE
Both hypertension and diabetes are known to increase the wall-to-lumen ratio (WLR) of retinal arterioles, but the differential effects are unknown. Here, we study the timing and relative impact of hypertension versus diabetes on the WLR in diabetic retinopathy (DR) to address this unresolved question.
METHODS
This prospective cross-sectional study compared the retinal arteriolar WLR in 17 healthy eyes, 15 with diabetes but no apparent DR (DM no DR), and 8 with diabetic macular edema (DME) and either nonproliferative or proliferative DR. We imaged each arteriole using adaptive optics scanning laser ophthalmoscopy and measured the WLR using ImageJ. Multiple linear regression (MLR) was performed to estimate the effects of hypertension, diabetes, and age on the WLR.
RESULTS
Both subjects with DM no DR and subjects with DME had significantly higher WLR than healthy subjects (0.36 ± 0.08 and 0.42 ± 0.08 vs. 0.29 ± 0.07, 1-way ANOVA P = 0.0009). MLR in healthy subjects and subjects with DM no DR showed hypertension had the strongest effect (regression coefficient = 0.08, P = 0.009), whereas age and diabetes were not significantly correlated with WLR. MLR in all three groups together (healthy, DM no DR, and DME) showed diabetes had the strongest effect (regression coefficient = 0.05, P = 0.02), whereas age and hypertension were not significantly correlated with WLR.
CONCLUSIONS
Hypertension may be an early driver of retinal arteriolar wall thickening in preclinical DR, independent of age or diabetes, whereas changes specific to DR may drive wall thickening in DME and later DR stages.
TRANSLATIONAL RELEVANCE
We offer a framework for understanding the relative contributions of hypertension and diabetes on the vascular wall, and emphasize the importance of hypertension control early in diabetes even before DR onset.
Topics: Humans; Cross-Sectional Studies; Male; Diabetic Retinopathy; Female; Middle Aged; Prospective Studies; Arterioles; Hypertension; Ophthalmoscopy; Aged; Adult; Retinal Artery; Macular Edema
PubMed: 38874974
DOI: 10.1167/tvst.13.6.8 -
Frontiers in Cellular Neuroscience 2024Organic interfaces have recently emerged as a breakthrough trend in biomedical applications, demonstrating exceptional performance in stimulating retinal neuronal cells...
INTRODUCTION
Organic interfaces have recently emerged as a breakthrough trend in biomedical applications, demonstrating exceptional performance in stimulating retinal neuronal cells owing to their high flexibility and compatibility with tissues. However, the primary challenge associated with organic photovoltaics is their low efficiency compared to that of their inorganic counterparts. Among different approaches, embedding plasmonic metal nanoparticles (NPs) in active or buffer layers can efficiently improve photovoltaic cell performance.
METHODS
A cathode decorated with silver nanoparticles is introduced to increase the absorption Phenomenon and improve the interface performance as a computational study. In addition to embedding spherical silver nanoparticles in the active layer (A-AgNPs), a monolayer array of spherical AgNPs in the cathode electrode (K-AgNPs) is incorporated. In this configuration, the large K-AgNPs play dual roles: acting as cathode electrode and serving as plasmonic centers to increase light trapping and absorption. The bulk heterojunction PCPDTBT:PCBM is chosen as the active layer due to its favorable electronic properties.
RESULTS
Our computational analysis demonstrates a notable 10% enhancement in the photovoltaic cell current density for the developed structure with K-AgNPs in contrast to without them. Additionally, the simulation results reveal that the modeled device achieves a two-fold efficiency of the bare photovoltaic cell (without A-AgNPs and K-AgNPs), which is particularly evident at a low intensity of 0.26 mW/mm.
DISCUSSION
This study aims to propose an efficient epiretinal prosthesis structure using a different strategy for plasmonic effects rather than conventional methods, such as incorporating NPs into the active or buffer layer. This structure can prevent the harmful side effects of using large metal NPs ( > 10 nm) in the active layer during exciton quenching, charge trapping, and recombination, which deteriorate the power conversion efficiency (PCE).
PubMed: 38873618
DOI: 10.3389/fncel.2024.1385567 -
Journal of Ophthalmology 2024Diabetic mellitus is a vision-threatening disease because it causes diabetic retinopathy worldwide. The main focus of this research is to determine the prevalence and...
BACKGROUND
Diabetic mellitus is a vision-threatening disease because it causes diabetic retinopathy worldwide. The main focus of this research is to determine the prevalence and assess the visual outcome in diabetic retinopathy and macular edema patients by injecting Bevacizumab clinically.
METHODS
This hospital-based trial case was conducted in Khulna BNSB Eye Hospital, Bangladesh. This study is based on a prospective cohort with a population of macular edema in 41 eyes of 25 diabetic patients, of whom 94 were diagnosed with diabetic retinopathy in 320 type 2 diabetes mellitus patients. The treating physician inserts 1.25 mg (0.05 ml) into the patient's eye. We have used optical coherence tomography (OCT) and colour fundus photography (CFP) for an eye check performed on all patients before and after the injection of Bevacizumab. The method results analyze the effects of the technique using IBM SPSS 25.
RESULTS
The study population selected 25 patients with 41 eyes for clinical investigation by injection of Bevacizumab. The net effects of this study on five eyes with macular edema were entirely resolved. It was BCVA from 6/6 to 6/9. The 29 eyes were partially resolved, which is called improved visual acuity, and BCVA was 6/12 to 6/60. In the case of seven eyes, we found that the vision did not change before or after the Avastin injection. No change was seen in seven eyes of macular edema due to the effects of the Avastin injection before and after.
CONCLUSIONS
In clinical trial-based research, Bevacizumab (Avastin) is best effective for diabetic retinopathy (DR) and diabetic macular edema (DME) patients.
PubMed: 38873280
DOI: 10.1155/2024/8437947