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BMC Ophthalmology Feb 2024Inherited retinal degenerations (IRDs) are a group of rare genetic conditions affecting retina of the eye that range in prevalence from 1 in 2000 to 1 in 4000 people...
BACKGROUND
Inherited retinal degenerations (IRDs) are a group of rare genetic conditions affecting retina of the eye that range in prevalence from 1 in 2000 to 1 in 4000 people globally. This review is based on a retrospective analysis of research articles reporting IRDs associated genetic findings in Pakistani families between 1999 and April 2023.
METHODS
Articles were retrieved through survey of online sources, notably, PubMed, Google Scholar, and Web of Science. Following a stringent selection criterion, a total of 126 research articles and conference abstracts were considered. All reported variants were cross-checked and validated for their correct genomic nomenclature using different online resources/databases, and their pathogenicity scores were explained as per ACMG guidelines.
RESULTS
A total of 277 unique sequence variants in 87 distinct genes, previously known to cause IRDs, were uncovered. In around 70% cases, parents of the index patient were consanguineously married, and approximately 88.81% of the detected variants were found in a homozygous state. Overall, more than 95% of the IRDs cases were recessively inherited. Missense variants were predominant (41.88%), followed by Indels/frameshift (26.35%), nonsense (19.13%), splice site (12.27%) and synonymous change (0.36%). Non-syndromic IRDs were significantly higher than syndromic IRDs (77.32% vs. 22.68%). Retinitis pigmentosa (RP) was the most frequently observed IRD followed by Leber's congenital amaurosis (LCA). Altogether, mutations in PDE6A gene was the leading cause of IRDs in Pakistani families followed by mutations in TULP1 gene.
CONCLUSION
In summary, Pakistani families are notable in expressing recessively inherited monogenic disorders including IRDs likely due to the highest prevalence of consanguinity in the country that leads to expression of rare pathogenic variants in homozygous state.
Topics: Humans; Pakistan; Retrospective Studies; Retinal Dystrophies; Retina; Retinitis Pigmentosa; Mutation; Pedigree; Eye Proteins; Cyclic Nucleotide Phosphodiesterases, Type 6
PubMed: 38317096
DOI: 10.1186/s12886-024-03319-7 -
BMC Ophthalmology Jan 2024Dry eye is one of the most common ophthalmic conditions and can significantly impact quality of life. Meibomian gland dysfunction (MGD) is a major cause of evaporative... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Dry eye is one of the most common ophthalmic conditions and can significantly impact quality of life. Meibomian gland dysfunction (MGD) is a major cause of evaporative dry eye. We sought to conduct a systematic review and meta-analysis to estimate the prevalence and incidence of dry eye and MGD in Central and South America and to identify factors associated with disease burden.
METHODS
Data sources Ovid MEDLINE and Embase.
STUDY SELECTION
A search conducted on August 16, 2021, identified studies published between January 1, 2010, and August 16, 2021, with no restrictions regarding participant age or language of publication. Case reports, case series, case-control studies, and interventional studies were excluded.
DATA EXTRACTION AND SYNTHESIS
The review was based on a protocol registered on PROSPERO (CRD42021256934). Risk of bias was assessed in duplicate using a risk of bias tool designed for the purposes of descriptive epidemiological studies. Data were extracted by one investigator and verified by another for accuracy. Prevalence of dry eye and MGD were grouped based on study participant characteristics.
MAIN OUTCOMES AND MEASURES
Prevalence and incidence of dry eye and MGD in Central and South America. Summary estimates from meta-analysis with 95% confidence intervals (CI).
RESULTS
Fourteen studies (11,594 total participants) were included. The population prevalence of dry eye was 13% (95% CI, 12%-14%) in Brazil and 41% (95% CI, 39%-44%) in Mexico based on one study each. Meta-analyses suggested that dry eye prevalence was 70% among indoor workers (95% CI, 56%-80%; I, 82%; 3 studies), 71% among students (95% CI, 65%-77%; I, 92%; 3 studies), and 83% in general ophthalmology clinics (95% CI, 77%-88%; I, 88%; 2 studies). MGD prevalence ranged from 23% among indoor workers (95% CI, 16%-31%; 1 study) to 68% in general ophthalmology clinics (95% CI, 62%-72%; 1 study). No studies reported incidence of dry eye or MGD.
CONCLUSIONS
This systematic review and meta-analysis demonstrated considerable variation in the published prevalence of dry eye and MGD among the general population and subpopulations in Central and South America. Local and subpopulation estimates of dry eye disease burden may be valuable to assist needs assessments and implementation of measures to mitigate the condition.
Topics: Humans; Meibomian Gland Dysfunction; Prevalence; Quality of Life; Dry Eye Syndromes; Brazil; Meibomian Glands; Tears
PubMed: 38297204
DOI: 10.1186/s12886-023-03249-w -
Archives of Disease in Childhood Mar 2024To estimate the global prevalence of asymptomatic colonisation, and determine the associated risk factors, antibiotic resistance and genotypes of methicillin-resistant... (Meta-Analysis)
Meta-Analysis
OBJECTIVE
To estimate the global prevalence of asymptomatic colonisation, and determine the associated risk factors, antibiotic resistance and genotypes of methicillin-resistant (MRSA) in the upper respiratory tract of young children.
DESIGN
Four bibliometric databases were searched for publications between 2010 and 2022 according to the protocol registered in PROSPERO. Cross-sectional or cohort studies describing the prevalence of asymptomatic colonisation of and MRSA in young children were included. Data extraction and analysis were carried out by two reviewers independently according to Preferred Reporting Items for Systematic Reviews and Meta-Analyses 2020 statement. Pooled prevalence was estimated using a random effects model.
SETTING AND STUDIES
We included studies where children without respiratory tract infection or Staphylococcal infection were recruited from the community, children's institutions (ie, nurseries, kindergartens, daycare centres and preschools) and healthcare centre visits and assessed for asymptomatic colonisation with and MRSA.
MAIN OUTCOME MEASURES
The pooled prevalence of asymptomatic colonisation of and MRSA of young children globally.
RESULTS
In this systematic review and meta-analysis of 21 416 young children, the pooled global prevalence of asymptomatic colonisation was 25.1% (95% CI 21.4 to 28.8) and MRSA colonisation was 3.4% (95% CI 2.8 to 4.1). The clones of MRSA strains included healthcare-associated MRSA, community-associated MRSA and livestock-associated MRSA.
CONCLUSION
This study provides evidence of increased MRSA colonisation globally among young children, underlining the critical role of asymptomatic carriers in MRSA transmission and the need for control measures.
PROSPERO REGISTRATION NUMBER
CRD 42022328385.
Topics: Child; Child, Preschool; Humans; Methicillin-Resistant Staphylococcus aureus; Staphylococcus aureus; Cross-Sectional Studies; Staphylococcal Infections; Nose; Prevalence
PubMed: 38296611
DOI: 10.1136/archdischild-2023-326124 -
Pain Physician Jan 2024Millions of interventional pain procedures are performed each year to address chronic pain. The increase in these procedures also raises the concern of health risks...
BACKGROUND
Millions of interventional pain procedures are performed each year to address chronic pain. The increase in these procedures also raises the concern of health risks associated with ionizing radiation for interventional pain management physicians who perform fluoroscopy-guided operations. Some health concerns include cancers, cataracts, and even pregnancy abnormalities. Little is known regarding the long-term and cumulative effects of small radiation doses.
OBJECTIVES
The objective of this systematic review was to identify common body parts that are exposed to ionizing radiation during interventional pain procedures and examine methods to help physicians reduce their radiation exposure.
STUDY DESIGN
The Preferred Reporting Items for Systematic Reviews and Meta-analysis (PRISMA) checklist was used to comprehensively identify articles from 2 medical databases. The radiation dose to interventional pain management physicians obtained from relevant peer-reviewed articles were aggregated and used for analysis.
METHODS
PubMed was first used to collect the articles for two broad keyword searches of "radiation exposure pain management" and "radiation exposure interventionalist" with years ranging from 1956 - February 2023. EMBASE was also used to collect the articles for the two keyword searches of "radiation exposure pain management" and "radiation exposure interventionalist" with years ranging from 1969 - February 2023. This systematic approach yielded a total of 2,736 articles; 24 were included in our paper. The risk of bias for these articles was performed using the Cochrane Risk of Bias tool and the National Institutes of Health tool.
RESULTS
Through our systematic literature search, more than 3,577 patients were treated by 30 interventional pain management physicians. Some areas of exposure to radiation include the physician's neck, chest, groin, hands, and eyes. One common body region that is exposed to radiation is the chest; our review found that wearing lead aprons can lower the radiation dose by more than 95%. Wearing protective equipment and managing the distance between the operator and fluoroscope can both independently lower the radiation dose by more than 90% as well. Our literature review also found that other body parts that are often overlooked in regard to radiation exposure are the eyes and hands. In our study, the radiation dose to the outside (unprotected) chest ranged from 0.008 ± 27 mrem to 1,345 mrem, the outside neck ranged from 572 mrem to 2,032 mrem, the outside groin ranged from 176 mrem to 1,292 mrem, the hands ranged from 0.006 ± 27.4 mrem to 0.114 ± 269 mrem, and the eyes ranged from 40 mrem to 369 mrem. When protective equipment was worn, the radiation exposure to the inside chest ranged from 0 mrem to 108 mrem, the inside neck ranged from 0 mrem to 68 mrem, and the inside groin ranged from 0 mrem to 15 mrem.
LIMITATIONS
Limitations of this study include its small sample size; only the radiation exposure of 30 interventional pain management physicians were examined. Furthermore, this review mainly consisted of observational studies rather than randomized clinical trials.
CONCLUSION
Implementing safety precautions, such as wearing protective gear, providing educational programs, and keeping a safe distance, demonstrated a significant decrease in radiation exposure. The experience of interventional pain management physicians also factored into their radiation exposure during procedures. Radiation is a known carcinogen, and more research is needed to better understand its risk to interventional pain management physicians.
Topics: Humans; Chronic Pain; Eye; Pain Management; Radiation Exposure; United States; Upper Extremity
PubMed: 38285025
DOI: No ID Found -
International Journal of Molecular... Jan 2024X-linked juvenile retinoschisis (XLRS) is an early-onset progressive inherited retinopathy affecting males. It is characterized by abnormalities in the macula, with... (Review)
Review
X-linked juvenile retinoschisis (XLRS) is an early-onset progressive inherited retinopathy affecting males. It is characterized by abnormalities in the macula, with formation of cystoid retinal cavities, frequently accompanied by splitting of the retinal layers, impaired synaptic transmission of visual signals, and associated loss of visual acuity. XLRS is caused by loss-of-function mutations in the retinoschisin gene located on the X chromosome (, MIM 30083). While proof-of-concept studies for gene augmentation therapy have been promising in in vitro and rodent models, clinical trials in XLRS patients have not been successful thus far. We performed a systematic literature investigation using search strings related to XLRS and gene therapy in in vivo and in vitro models. Three rounds of screening (title/abstract, full text and qualitative) were performed by two independent reviewers until consensus was reached. Characteristics related to study design and intervention were extracted from all studies. Results were divided into studies using (1) viral and (2) non-viral therapies. All in vivo rodent studies that used viral vectors were assessed for quality and risk of bias using the SYRCLE's risk-of-bias tool. Studies using alternative and non-viral delivery techniques, either in vivo or in vitro, were extracted and reviewed qualitatively, given the diverse and dispersed nature of the information. For in-depth analysis of in vivo studies using viral vectors, outcome data for optical coherence tomography (OCT), immunohistopathology and electroretinography (ERG) were extracted. Meta-analyses were performed on the effect of recombinant adeno-associated viral vector (AAV)-mediated gene augmentation therapies on a- and b-wave amplitude as well as the ratio between b- and a-wave amplitudes (b/a-ratio) extracted from ERG data. Subgroup analyses and meta-regression were performed for model, dose, age at injection, follow-up time point and delivery method. Between-study heterogeneity was assessed with a Chi-square test of homogeneity (I). We identified 25 studies that target RS1 and met our search string. A total of 19 of these studies reported rodent viral methods in vivo. Six of the 25 studies used non-viral or alternative delivery methods, either in vitro or in vivo. Of these, five studies described non-viral methods and one study described an alternative delivery method. The 19 aforementioned in vivo studies were assessed for risk of bias and quality assessments and showed inconsistency in reporting. This resulted in an unclear risk of bias in most included studies. All 19 studies used AAVs to deliver intact human or murine in rodent models for XLRS. Meta-analyses of a-wave amplitude, b-wave amplitude, and b/a-ratio showed that, overall, AAV-mediated gene augmentation therapy significantly ameliorated the disease phenotype on these parameters. Subgroup analyses and meta-regression showed significant correlations between b-wave amplitude effect size and dose, although between-study heterogeneity was high. This systematic review reiterates the high potential for gene therapy in XLRS, while highlighting the importance of careful preclinical study design and reporting. The establishment of a systematic approach in these studies is essential to effectively translate this knowledge into novel and improved treatment alternatives.
Topics: Male; Humans; Animals; Mice; Retinoschisis; Retina; Electroretinography; Genetic Therapy; Mutation; Eye Proteins
PubMed: 38279267
DOI: 10.3390/ijms25021267 -
Indian Journal of Ophthalmology Feb 2024Keratoconus is a corneal disorder characterized by the progressive thinning and bulging of the cornea. Currently, the major goal of management is to halt its...
Keratoconus is a corneal disorder characterized by the progressive thinning and bulging of the cornea. Currently, the major goal of management is to halt its progression, restore normal corneal strength, prevent acute complications, and save vision. Penetrating keratoplasty and deep anterior lamellar keratoplasty as conventional surgical methods for advanced keratoconus are limited by relatively high rates of immune intolerance, slow post-operational recovery, high costs, and shortage of donor corneas. Recently, the development of lenticule addition keratoplasty enables the restoration of corneal thickness simply by implanting a lenticule into the stromal pocket created with the femtosecond laser, which can originate from cadaver corneas or more appealing, be extracted from patients via a small-incision lenticule extraction (SMILE) surgery. As the first systematic review in this field, we critically review publications on lenticule addition keratoplasty and provide our perspectives on its clinical application and the focus of future research.
Topics: Humans; Keratoconus; Corneal Transplantation; Cornea; Keratoplasty, Penetrating; Lasers; Corneal Stroma
PubMed: 38271413
DOI: 10.4103/IJO.IJO_695_23 -
Ophthalmic Research 2024Anterior ischemic optic neuropathy (AION) can mimic glaucoma and consequently cause difficulties in differential diagnosis. The purpose of this paper was to summarize... (Review)
Review
INTRODUCTION
Anterior ischemic optic neuropathy (AION) can mimic glaucoma and consequently cause difficulties in differential diagnosis. The purpose of this paper was to summarize differences in diagnostic tests that can help perform a correct diagnosis.
METHODS
The search strategy was performed according to the PRISMA 2009 guidelines, and four databases were used: MEDLINE, Embase, Web of Science, and Cochrane. Totally, 772 references were eligible; 39 were included after screening with respect to inclusion criteria that included English language and published in the 20 years before search date.
RESULTS
Ninety percent (n = 35) of included studies used optical coherence tomography (OCT). Glaucomatous eyes had a significantly greater cup area, volume and depth, cup-to-disk ratio, a lower rim volume and area, and a thinner Bruch's membrane opening-minimum rim width. Retinal nerve fiber layer (RNFL) thinning in glaucomatous eyes occurred primarily at the superotemporal, inferotemporal, and inferonasal sectors, while AION eyes demonstrated mostly superonasal thinning. Glaucoma eyes showed greater macular ganglion cell layer thickness, except at the inferotemporal sector. OCT angiography measurements demonstrated a significant decrease in superficial and deep macular vessel density (VD) in glaucoma compared to AION with similar degree of visual field damage; the parapapillary choroidal VD was spared in AION eyes compared to glaucomatous eyes.
CONCLUSION
By use of OCT imaging, optic nerve head parameters seem most informative to distinguish between glaucoma and AION. Although both diseases affect the RNFL thickness, it seems to do so in different sectors. Differences in structure and vascularity of the macula can also help in making the differential diagnosis.
Topics: Humans; Optic Neuropathy, Ischemic; Diagnosis, Differential; Tomography, Optical Coherence; Nerve Fibers; Retinal Ganglion Cells; Optic Disk; Glaucoma; Visual Fields; Intraocular Pressure
PubMed: 38262372
DOI: 10.1159/000535568 -
PloS One 2024To evaluate the accuracy of 10 formulas for calculating intraocular lens (IOL) power in cataract eye with an axial length (AL) of more than 28.0 mm. (Meta-Analysis)
Meta-Analysis
OBJECTIVE
To evaluate the accuracy of 10 formulas for calculating intraocular lens (IOL) power in cataract eye with an axial length (AL) of more than 28.0 mm.
METHODS
We searched scientific databases including PubMed, EMBASE, Web of Science and Cochrane Library for research published over the past 5 years, up to Sept 2023. The inclusion criteria were case series studies that compared different formulas (Barrett II, EVO, Kane, Hill-RBF, Haigis, Hoffer Q, Holladay 1, SRK/T, Holladay 1 w-k and SRK/T w-k), in patients with extremely long AL undergoing uncomplicated cataract surgery with IOL implantation. The mean difference (MD) of mean absolute error (MAE) and the odds ratio (OR) of both the percentage of eyes within ±0.50D of prediction error (PPE±0.50D) and the percentage of eyes within ±1.00D of prediction error (PPE±1.00D) among different formulas were pooled using meta-analysis.
RESULTS
A total of 11 studies, involving 1376 eyes, were included to evaluate the 10 formulas mentioned above. Among these formulas, Barrett II, EVO, Kane, and Hill-RBF demonstrated significantly lower MAE values compared to SRK/T. Furthermore, Kane and Hill-RBF had lower MAE values than EVO. Additionally, Barrett II and Kane yielded significantly lower MAE values than Haigis while Hill-RBF showed significantly lower MAE values than Holladay 1. Moreover, Hill-RBF showed the highest values for both PPE±0.50D and PPE±1.00D, followed by Kane. Both EVO and Kane had higher values of PPE±0.50D and PPE±1.00D compared to Haigis and SRK/T.
CONCLUSION
The Wang-Koch adjusted formulas and new-generation formulas have shown potential for higher accuracy in predicting IOL power for cataract patients with extremely long AL compared to traditional formulas. Based on the current limited clinical studies, Hill-RBF and Kane formulas seem to be a better choice for eyes with extremely long AL.
Topics: Humans; Eye; Cataract; Cataract Extraction; Databases, Factual; Lenses, Intraocular
PubMed: 38252627
DOI: 10.1371/journal.pone.0296771 -
Eye (London, England) Apr 2024Mild traumatic brain injury (mTBI) is common with many patients suffering disabling long-term sequelae, with visual symptoms frequently reported. There are no objective... (Review)
Review
Mild traumatic brain injury (mTBI) is common with many patients suffering disabling long-term sequelae, with visual symptoms frequently reported. There are no objective biomarkers of mTBI that are routinely used in clinical practice. Optical coherence tomography (OCT) has been used in mTBI research, as it enables visualisation of the neuroretina, allowing measurement of the retinal nerve fibre layer and ganglion cell layer. This systematic review aims to appraise the available literature and assess whether there are significant changes within the retinal nerve fibre layer and ganglion cell layer in subjects after mTBI. A systematic review was carried out in accordance with PRISMA guidelines and registered with PROSPERO (Number: CRD42022360498). Four databases were searched for relevant literature published from inception until 1 September 2022. Abstracts and full texts were screened by three independent reviewers. Initial screening of databases yielded 341 publications, of these, three fulfilled all the criteria for inclusion. All three studies showed thinning of the retinal nerve fibre layer, whereas there were no significant changes in the ganglion cell layer. This systematic review demonstrated that thinning of the retinal nerve fibre layer (but not of the ganglion cell layer) is associated with mTBI. It provides preliminary evidence for the use of the retinal nerve fibre layer as a potential biomarker of damage to the visual system in mTBI. Further prospective longitudinal studies ensuring uniform diagnosis and accurate phenotyping of mTBI are needed to understand the effects on the visual system and potential of OCT as a prognostic biomarker.
Topics: Adult; Humans; Retinal Ganglion Cells; Tomography, Optical Coherence; Brain Concussion; Nerve Fibers; Biomarkers
PubMed: 38238577
DOI: 10.1038/s41433-023-02845-w -
Clinical Psychology Review Mar 2024The Reading the Mind in the Eyes Test (RMET) is one of the most influential measures of social cognitive ability, and it has been used extensively in clinical... (Review)
Review
The Reading the Mind in the Eyes Test (RMET) is one of the most influential measures of social cognitive ability, and it has been used extensively in clinical populations. However, questions have been raised about the validity of RMET scores. We conducted a systematic scoping review of the validity evidence reported in studies that administered the RMET (n = 1461; of which 804 included at least one clinical sample) with a focus on six key dimensions: internal consistency, test-retest reliability, factor structure, convergent validity, discriminant validity, and known group validity. Strikingly, 63% of these studies failed to provide validity evidence from any of these six categories. Moreover, when evidence was reported, it frequently failed to meet widely accepted validity standards. Overall, our results suggest a troubling conclusion: the validity of RMET scores (and the research findings based on them) are largely unsubstantiated and uninterpretable. More broadly, this project demonstrates how unaddressed measurement issues can undermine a voluminous psychological literature.
Topics: Humans; Reproducibility of Results; Cognition; Affective Symptoms; Eye; Social Skills
PubMed: 38232573
DOI: 10.1016/j.cpr.2023.102378