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Frontiers in Genetics 2023To analyze the phenotypes, genotypes, and the relationship of phenotypes and genotypes for Chinese patients with Bardet-Biedl syndrome (BBS). The Chinese Wanfang and...
To analyze the phenotypes, genotypes, and the relationship of phenotypes and genotypes for Chinese patients with Bardet-Biedl syndrome (BBS). The Chinese Wanfang and Weipu data, and PubMed were searched up to December 2022. Patients with detailed clinical feature data were involved in the analysis. A total of 153 Chinese patients, including 87 males, 53 females, and 12 unknown, were enrolled. Their ages ranged from 1.2 to 44 years old with a mean of 16.70 ± 9.90 years old. Among these patients, 80 (52.29%) were reported by ophthalmologists, and only 24 (15.68%) reported by pediatricians. Most patients (132/137, 96.35%) had visual problems; 131/153 (85.62%) had polydactyly; 124/132 (93.93%) were overweight or obese; 63/114 (55.26%) had renal abnormalities; kidney dysfunction was found in 33 (21.57%); 83/104 (79.81%) had hypogonadism and/or genital hypoplasia; and 111/136 (81.62%) had mental retardation. In this series, genetic analysis was performed in 90 (58.82%) patients, including 22 (24.71%), 20 (22.73%), and 10 (11.24%) patients. Moreover, 11 fetuses were diagnosed prenatally in the last 4 years except for one patient in 2004 year. It was noted that had higher penetrance. had higher hearing impairment and lower renal abnormality penetrance. also had lower renal abnormality penetrance as well. Misdiagnosis or miss diagnosis of BBS may be common in China. In patients with polydactyly, visual impairment, obesity, renal abnormalities, hypogonadism, and mental retardation, or in fetuses with polydactyly and/or renal abnormalities, BBS should be considered in the differential diagnosis. Other deformities should be evaluated carefully and genetic analysis should be performed as early as possible.
PubMed: 38034494
DOI: 10.3389/fgene.2023.1247557 -
Journal of Cataract and Refractive... Mar 2023Retinitis pigmentosa (RP) is an inherited bilateral retinal degenerative disease with an incidence of 1 in 4000 people. RP affects more than 1 million individuals...
Retinitis pigmentosa (RP) is an inherited bilateral retinal degenerative disease with an incidence of 1 in 4000 people. RP affects more than 1 million individuals worldwide. Although night blindness and restricted visual field are the most typical symptoms of these individuals, generalized vision loss due to cataracts can be expected in the latter stages of the disease. It has been demonstrated that posterior subcapsular cataract is the most prevalent cataract in younger individuals with RP, as opposed to age-related cataracts. Although most ophthalmologists may have a negative view of cataract surgery in patients with RP, it appears that it can play an important role in the visual restoration of patients with RP. However, there are concerns about performing cataract surgery for patients with RP. Herein, a systematic review was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses on databases of MEDLINE and Scopus.
Topics: Humans; Visual Acuity; Cataract Extraction; Lens, Crystalline; Cataract; Retinitis Pigmentosa
PubMed: 36730350
DOI: 10.1097/j.jcrs.0000000000001101 -
JAMA Network Open Feb 2020Diagnosing posterior chamber ocular abnormalities typically requires specialist assessment. Point-of-care ultrasonography (POCUS) performed by nonspecialists, if... (Meta-Analysis)
Meta-Analysis
IMPORTANCE
Diagnosing posterior chamber ocular abnormalities typically requires specialist assessment. Point-of-care ultrasonography (POCUS) performed by nonspecialists, if accurate, could negate the need for urgent ophthalmologist evaluation.
OBJECTIVE
This meta-analysis sought to define the diagnostic test characteristics of emergency practitioner-performed ocular POCUS to diagnose multiple posterior chamber abnormalities in adults.
DATA SOURCES
PubMed (OVID), MEDLINE, EMBASE, Cochrane, CINAHL, and SCOPUS were searched from inception through June 2019 without restrictions. Conference abstracts and trial registries were also searched. Bibliographies of included studies and relevant reviews were manually searched, and experts in the field were queried.
STUDY SELECTION
Included studies compared ocular POCUS performed by emergency practitioners with a reference standard of ophthalmologist evaluation. Pediatric studies were excluded. All 116 studies identified during abstract screening as potentially relevant underwent full-text review by multiple authors, and 9 studies were included.
DATA EXTRACTION AND SYNTHESIS
In accordance with PRISMA guidelines, multiple authors extracted data from included studies. Results were meta-analyzed for each diagnosis using a bivariate random-effects model. Data analysis was performed in July 2019.
MAIN OUTCOMES AND MEASURES
The outcomes of interest were diagnostic test characteristics of ocular POCUS for the following diagnoses: retinal detachment, vitreous hemorrhage, vitreous detachment, intraocular foreign body, globe rupture, and lens dislocation.
RESULTS
Nine studies (1189 eyes) were included. All studies evaluated retinal detachment, but up to 5 studies assessed each of the other diagnoses of interest. For retinal detachment, sensitivity was 0.94 (95% CI, 0.88-0.97) and specificity was 0.94 (95% CI, 0.85-0.98). Sensitivity and specificity were 0.90 (95% CI, 0.65-0.98) and 0.92 (95% CI, 0.75-0.98), respectively, for vitreous hemorrhage and were 0.67 (95% CI, 0.51-0.81) and 0.89 (95% CI, 0.53-0.98), respectively, for vitreous detachment. Sensitivity and specificity were high for lens dislocation (0.97 [95% CI, 0.83-0.99] and 0.99 [95% CI, 0.97-1.00]), intraocular foreign body (1.00 [95% CI, 0.81-1.00] and 0.99 [95% CI, 0.99-1.00]), and globe rupture (1.00 [95% CI, 0.63-1.00] and 0.99 [95% CI, 0.99-1.00]). Results were generally unchanged in sensitivity analyses of studies with low risk of bias.
CONCLUSIONS AND RELEVANCE
This study suggests that emergency practitioner-performed ocular POCUS is an accurate test to assess for retinal detachment in adults. Its utility in diagnosing other posterior chamber abnormalities is promising but needs further study.
Topics: Eye Diseases; Humans; Point-of-Care Systems; Posterior Eye Segment; Retinal Detachment; Ultrasonography
PubMed: 32074291
DOI: 10.1001/jamanetworkopen.2019.21460 -
Systematic Reviews Sep 2020Thyroid eye disease is an autoimmune disorder of the orbital retrobulbar tissue commonly associated with dysthyroid status. The most frequent condition is...
BACKGROUND
Thyroid eye disease is an autoimmune disorder of the orbital retrobulbar tissue commonly associated with dysthyroid status. The most frequent condition is hyperthyroidism, although it is also present in hypothyroid and euthyroid patients. The prevalence of thyroid conditions in patients with thyroid eye disease had been previously evaluated; however, there is no consensus on a global prevalence. The study aims to estimate the prevalence of hyperthyroidism, hypothyroidism, and euthyroidism in patients with TED, through a systematic review of literature.
METHODS
We conducted a systematic review of the literature following the PRISMA guidelines, in MEDLINE, COCHRANE, EMBASE, Science Direct, and LILACS databases. Inclusion criteria were primary studies of patients with a diagnosis of thyroid eye disease made by an ophthalmologist or with diagnosis criteria, with measurement of thyroid function (TSH, T3, and free T4), and diagnosis of the primary thyroid condition. A quality assessment was made through the Joanna Briggs Institute Quality tools. Finally, we extracted relevant details about the design, the results, and the prevalence of thyroid disorders in thyroid eye disease.
RESULTS
The initial search revealed 916 studies, of which finally thirteen met inclusion criteria. Six studies were performed in Europe (Germany, Wales, and Spain), five in Asia (Iran, South Korea, Japan, and Singapore), one in North America (USA), and one in Africa (Ghana). The global prevalence, in patients of thyroid eye disease, was 10.36% for hypothyroidism, 7.9% for euthyroidism, and 86.2% for hyperthyroidism.
CONCLUSIONS
Professionals should be aware that thyroid eye disease can be present in patients with a normal thyroid function. The assessment for these patients is based on orbital images; serum TSH, T3, and free T4; antibody levels as thyrotropin receptor antibodies; and thyroperoxidase levels. Additionally, we want to encourage research in this field in other regions of the world such as Latin America.
SYSTEMATIC REVIEW REGISTRATION
PROSPERO ID CRD42020107167.
Topics: Africa; Asia; Europe; Humans; Hyperthyroidism; Hypothyroidism; North America; Prevalence; Thyrotropin
PubMed: 32873324
DOI: 10.1186/s13643-020-01459-7 -
Clinical Ophthalmology (Auckland, N.Z.) 2021Over 700,000 New Zealanders (NZ), particularly elderly and Māori, live without timely access to specialist ophthalmology services. Teleophthalmology is a widely... (Review)
Review
A Systematic Review of Current Teleophthalmology Services in New Zealand Compared to the Four Comparable Countries of the United Kingdom, Australia, United States of America (USA) and Canada.
BACKGROUND
Over 700,000 New Zealanders (NZ), particularly elderly and Māori, live without timely access to specialist ophthalmology services. Teleophthalmology is a widely recognised tool that can assist in overcoming resource and distance barriers. Teleophthalmology gained unprecedented traction in NZ during the COVID-19 pandemic and subsequent lockdown. However, its provision is still limited and there are equity issues. The aim of this study was to conduct a systematic review identifying, describing and contrasting teleophthalmology services in NZ with the comparable countries of Australia, USA, Canada and the United Kingdom.
METHODS
The electronic databases Embase, PubMed, Web of Science, Google Scholar and Google were systemically searched using the keywords: telemedicine, ophthalmology, tele-ophthalmology/teleophthalmology. The searches were filtered to the countries above, with no time constraints. An integrative approach was used to synthesise findings.
RESULTS
One hundred and thirty-two studies were identified describing 90 discrete teleophthalmology services. Articles spanned from 1997 to 2020. Models were categorised into general eye care (n=21; 16%); emergency/trauma (n=6; 4.5%); school screening (n=25; 19%); artificial intelligence (AI) (n=23; 18%); and disease-specific models of care (MOC) (n=57; 43%). The most common diseases addressed were diabetic retinopathy (n=23; 17%); retinopathy of prematurity (n=9; 7%); and glaucoma (n=8; 6%). Programs were mainly centred in the US (n=72; 54.5%), followed by the UK (n=29; 22%), then Canada (n=16; 12%), Australia (n=13; 10%), with the fewest identified in NZ (n=3; 2%). Models generally involved an ophthalmologist consultative service, remote supervision and triaging. Most models involved local clinicians transmitting fed-forward or live images.
CONCLUSION
Teleophthalmology will likely play a crucial role in the future of eye care. COVID-19 has offered a unique opportunity to observe the use of teleophthalmology services globally. Feed-forward and, increasingly, live-based teleophthalmology services have demonstrated feasibility and cost-effectiveness in similar countries internationally. New Zealand's teleophthalmology services, however, are currently limited. Investing in strategic partnerships and technology at a national level can advance health equities in ophthalmic care.
PubMed: 34675470
DOI: 10.2147/OPTH.S294428 -
European Review For Medical and... Nov 2023Proteus syndrome (PS) is an extremely rare disorder with ocular manifestations. In this study, we aimed to describe the ophthalmic characteristics and the clinical...
BACKGROUND
Proteus syndrome (PS) is an extremely rare disorder with ocular manifestations. In this study, we aimed to describe the ophthalmic characteristics and the clinical course of an unusual PS patient to acquire a comprehensive and intensive understanding of ocular PS and highlight the importance of collaborative treatment by ophthalmologists.
CASE PRESENTATION
A case of PS with atypical ocular features and syndromes was observed in a Chinese female. Her proptosis and vision impairment were relieved after Endoscope-Navigation system (ENS)-aided optic canal decompression. A 1.5-year follow-up showed that the treatment was temporarily effective, but the disease continued to develop. A review of the literature was conducted: forty-eight patients met the inclusion criteria. Although ocular manifestations play important roles in PS diagnosis, only a limited number of cases have been reported to have ocular abnormalities. And to date, almost none of these reports have described the treatment in detail. Therefore, PS patients with ocular manifestations were reviewed.
CONCLUSIONS
PS is a complex disorder with variable characteristics and progressive imbalances. In this paper, the clinical symptoms, molecular characteristics, and differential diagnosis of PS are introduced. More importantly, the ocular manifestations, treatment, and prognosis of PS cases to date are summarized and discussed. This study aimed to acquire a comprehensive and intensive understanding of ocular PS and to reveal the importance of collaborative treatment by ophthalmologists.
Topics: Humans; Female; Proteus Syndrome; Eye
PubMed: 37975355
DOI: 10.26355/eurrev_202311_34306 -
Advances in Therapy Jan 2020Treatment of neovascular age-related macular degeneration (nAMD) has evolved with the advent of anti-vascular endothelial growth factor agents such that intravitreally... (Meta-Analysis)
Meta-Analysis
Real-World Effectiveness and Real-World Cost-Effectiveness of Intravitreal Aflibercept and Intravitreal Ranibizumab in Neovascular Age-Related Macular Degeneration: Systematic Review and Meta-Analysis of Real-World Studies.
INTRODUCTION
Treatment of neovascular age-related macular degeneration (nAMD) has evolved with the advent of anti-vascular endothelial growth factor agents such that intravitreally administered aflibercept and ranibizumab (RBZ) have become the standard of care. Randomized clinical trials (RCTs) have demonstrated the benefits of these agents in nAMD; however, results achieved under RCT protocols may not always be replicated in clinical practice. Assessing real-world outcomes is important to estimate the effectiveness and cost-effectiveness of these two agents. Our objective was to assess the real-world effectiveness of intravitreally administered aflibercept and RBZ in treatment-naive patients with nAMD and determine the cost-effectiveness of intravitreally administered aflibercept versus RBZ in a real-world setting.
METHODS
A multistage approach was undertaken. A systematic literature review (SLR) was completed to identify studies describing real-world outcomes in patients with nAMD treated intravitreally with aflibercept or RBZ. A meta-analysis of data identified in the SLR generated a pooled estimate of the effectiveness of intravitreally administered aflibercept and RBZ at 52 weeks and an estimate of treatment burden (injection frequency and monitoring). The impact of treatment effect modifiers, such as baseline visual acuity (VA) and age, were corrected through a multivariable meta-regression. A Markov state transition model was developed to estimate the real-world cost-effectiveness of intravitreally administered aflibercept using results from the pooled estimates for effectiveness and treatment burden as primary inputs. The analysis considered the perspective of the French National Healthcare System.
RESULTS
Patients treated intravitreally with aflibercept had a mean age of 79.52 years and mean baseline VA of 55.80 Early Treatment Diabetic Retinopathy Study (ETDRS) letters. At week 52, mean VA gain was 5.30 ETDRS letters in patients reporting an average of 7.10 intravitreal injections of aflibercept and 8.65 visits (injection and/or monitoring). RBZ-treated patients were younger (77.28 years), with a lower mean baseline VA (52.81 ETDRS letters). At week 52, mean VA gain from baseline was 4.24 ETDRS letters, with an average of 5.88 injections and 10.10 visits (injection and/or monitoring). After correcting for differences in age (77.28 years) and baseline VA (52.81 ETDRS letters) and considering the current clinical practice with aflibercept and RBZ, the mean VA gain was 6.57 ETDRS letters for patients treated intravitreally with aflibercept and 4.42 ETDRS for patients treated intravitreally with RBZ. The cost-effectiveness analysis showed that intravitreally administered aflibercept is a more effective treatment option with an incremental gain in quality-adjusted life years (QALYs) (4.918 versus 4.880) and an incremental cost-effectiveness ratio (ICER) of €27,087 per QALY.
CONCLUSIONS
The analysis identified differences in the overall treatment approach and how ophthalmologists use intravitreally administered aflibercept and RBZ in clinical practice. These differences ultimately influence the mean real-world effectiveness of the two agents. Intravitreal treatment with aflibercept (injection frequency and patients follow-up) was consistent and in line with the European label recommendations. Patients treated intravitreally with aflibercept in clinical practice reported a mean gain in VA of similar magnitude to the mean VA gain reported in the pivotal RCT. Conversely, treatment with RBZ varied significantly across the different studies. On average, RBZ-treated patients reported a low injection frequency and a frequent follow-up, driven in part by the high number of patients treated with pro re nata (PRN) regimens. RBZ-treated patients reported gains in VA versus baseline; however, the magnitude of the gain in VA was not comparable to the VA gains reported in the RBZ pivotal RCT. Intravitreal treatment with aflibercept was associated with better mean VA outcomes and an incremental gain in QALYs compared with RBZ and can be considered cost-effective for the treatment of nAMD in patients in France despite a higher price for each individual intravitreal injection of aflibercept compared with RBZ.
FUNDING
Bayer AG, Basel.
Topics: Aged; Angiogenesis Inhibitors; Cost-Benefit Analysis; Female; Humans; Intravitreal Injections; Macular Degeneration; Male; Randomized Controlled Trials as Topic; Ranibizumab; Receptors, Vascular Endothelial Growth Factor; Recombinant Fusion Proteins; Treatment Outcome; Vascular Endothelial Growth Factor A; Visual Acuity
PubMed: 31728825
DOI: 10.1007/s12325-019-01147-6 -
American Journal of Medical Genetics.... Feb 2022The 22q11.2 deletion syndrome (22q11.2DS) is a multisystem disorder with an estimated prevalence of 1:3000 live births. Manifestations show a marked variability in...
The 22q11.2 deletion syndrome (22q11.2DS) is a multisystem disorder with an estimated prevalence of 1:3000 live births. Manifestations show a marked variability in expression and include speech- and language delay, intellectual disability, and neuropsychiatric disorders. We aim to provide an overview of ocular findings in 22q11.2DS in order to optimize recommendations for ophthalmic screening. We combined results from a systematic literature review with results from a multicenter cross-sectional study of patients with 22q11.2DS who were assessed by an ophthalmologist. Our systematic literature search yielded four articles, describing 270 patients. We included 132 patients in our cross-sectional study (median age 8.9 [range 0-56] years). Most reported ocular findings were retinal vascular tortuosity (32%-78%), posterior embryotoxon (22%-50%), eye lid hooding (20%-67%), strabismus (12%-36%), amblyopia (2%-11%), ptosis (4%-6%), and refractive errors, of which hyperopia (6%-48%) and astigmatism (3%-23%) were most common. Visual acuity was (near) normal in most patients (91%-94%). Refractive errors, strabismus, and amblyopia are treatable conditions that are frequently present in patients with 22q11.2DS and should be corrected at an early stage. Therefore, in 22q11.2DS, we recommend ophthalmic and orthoptic screening at the age of 3 years or at diagnosis, and a low-threshold referral in adults.
Topics: Adolescent; Adult; Child; Child, Preschool; Cross-Sectional Studies; DiGeorge Syndrome; Eye Abnormalities; Humans; Infant; Infant, Newborn; Intellectual Disability; Language; Middle Aged; Multicenter Studies as Topic; Young Adult
PubMed: 34773366
DOI: 10.1002/ajmg.a.62556 -
Journal of Clinical Medicine Apr 2024: To evaluate and review the current evidence regarding the association between ischemic optic neuropathy (ION) and internal carotid artery dissection (ICAD). : We... (Review)
Review
: To evaluate and review the current evidence regarding the association between ischemic optic neuropathy (ION) and internal carotid artery dissection (ICAD). : We systematically reviewed studies according to the Preferred Reporting Items for Systematic Reviews and Meta-Analysis guidelines (PRISMA), searching three databases (Scopus, Pubmed, and Embase) for relevant articles that clearly described the correlation between ION and ICAD. All studies that examined the association between ICAD and the development of ION were synthesized. Quality assessment using the Newcastle-Ottawa Scale (NOS) and Joanna Briggs Institute (JBI) Critical Appraisal Checklist for Case Reports and Case Series were conducted. : Our search yielded 198 manuscripts published in the English language. Following study screening, fourteen studies were selected. The number of participants with ION following ICAD ranged from one to four, with sixteen patients experiencing either anterior ION, posterior ION, or a combination of both. The anterior or posterior ischemic optic neuropathy (AION and PION) patients' ages were 48.75 ± 11.75 and 49.62 ± 12.85, respectively. Fourteen out of sixteen patients experienced spontaneous ICAD, whereas the traumatic etiology was ascertained in two patients. : Hence, albeit rare, ophthalmologists should consider ICAD a potential cause of ION, especially in young adults with concomitant cephalic pain and vision reduction.
PubMed: 38731015
DOI: 10.3390/jcm13092486 -
Clinics and Practice Jun 2022Diabetic retinopathy is a vascular disease of the retina that affects patients with uncontrolled diabetes. Untreated diabetic retinopathy (DR) can eventually lead to... (Review)
Review
Diabetic retinopathy is a vascular disease of the retina that affects patients with uncontrolled diabetes. Untreated diabetic retinopathy (DR) can eventually lead to blindness. To date, diabetic retinopathy is the third leading cause of vision loss in the working class globally. Frequent retinal screening for all diabetic people is an effective method of preventing diabetic retinopathy blindness. This has relied on the use of ophthalmologists, but due to scarce resources, such as a shortage of human resources for eye health, this has denied many patients quality eye health care in a resource-limited setting. The recent advances on the use of teleophthalmology are promising to close this gap. This study aimed to map available evidence on the use of teleophthalmology in the screening of DR globally and to explore how this can be used to complement short-staffed eye clinics, especially in resource-constrained contexts. Studies were sourced from Google Scholar, PubMed, Science Direct, and EBSCO host. The final study selection was presented using a PRISMA chart. The mixed method appraisal tool was used to assess the quality of the nine studies included. The random effect model was used to estimate pooled prevalence estimates. Levels of heterogeneity were evaluated using Cochran's Q statistic and I. Of nine included studies, eight were from high-income countries. The screening was performed at the primary healthcare level in eight of nine included studies. Only one study used a mydriatic agent, and the commonly used fundus camera was the non-mydriatic fundus camera. The overall estimated pooled prevalence of DR was 29 (95%CI: 10-34). Teleophthalmology at the primary health care level showed that early intervention in diabetic retinopathy reduced avoidable blindness and ensured remote access to eye health professionals, thus alleviating the burden on them.
PubMed: 35892436
DOI: 10.3390/clinpract12040050