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Ophthalmic Research 2024Although the p.C759F (c.2276G>T, p.Cys759Phe) variant in the USH2A gene has been identified in association with retinal degeneration by several authors, its... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Although the p.C759F (c.2276G>T, p.Cys759Phe) variant in the USH2A gene has been identified in association with retinal degeneration by several authors, its pathogenicity has been questioned once by the publication of two unaffected homozygotes from a single family.
OBJECTIVES
The objective of the study was to ascertain the role of p.C759F in hereditary retinal disease.
METHODS
We examined 87 research articles reporting on patients carrying this variant and then used this information as primary data for a series of meta-analytical tests.
RESULTS
Independent statistical analyses showed that p.C759F (i) is highly enriched in patients with respect to healthy individuals, (ii) represents a clear-cut recessive allele causing disease when it is in trans with other mutations, (iii) is pathogenic in homozygotes.
CONCLUSIONS
Our results confirm that p.C759F is a bona fide mutation, leading to retinal blindness according to a recessive pattern of inheritance.
Topics: Humans; Retinitis Pigmentosa; Usher Syndromes; Mutation; Genotype; Extracellular Matrix Proteins; DNA Mutational Analysis
PubMed: 38016437
DOI: 10.1159/000535545 -
BMC Ophthalmology Nov 2023Age-related Macular Degeneration (AMD) is one of the most common causes of vision loss. A substantial increase in the burden of AMD is expected in the aging populations,... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Age-related Macular Degeneration (AMD) is one of the most common causes of vision loss. A substantial increase in the burden of AMD is expected in the aging populations, including the Iranians. We investigated the age and gender-specific prevalence of AMD and its determinants in Iran.
METHODS
We systematically searched international (PubMed, Scopus, Embase, etc.) and local (IranDoc, Magiran, etc.) online databases. We included cross-sectional or cohort studies, either clinic- or population-based, published on the prevalence of AMD among Iranians, with no limitation on age. Joanna Briggs Institute (JBI) tools for critical appraisal were used. Prevalence estimates are pooled by applying random-effects modeling. Subgroup analysis and meta-regression were performed.
RESULTS
Seventeen studies with 16,120 participants were included. Based on studies in general population, the pooled prevalence of AMD was 10.8% (95% CI: 6.5-16.2%) in males, and 9.8% (95% CI: 4.7-16.4%) in females. 8.5% of moderate vision impaired, 13.6% of severe vision impaired, and 15.7% of blind participants were affected by AMD. The prevalence of AMD was 2% in 40-49, and 32.3% in the ≥ 80 population. The prevalence of AMD was 11.9% among the visually impaired vs. 8.7% in the general population. The study's sampling method, location, and mean age were correlated with the heterogeneities of the prevalence. We observed an increasing trend in the number of AMD cases (average annual percent change = 3.66%; 95% CI: 3.65-3.67%) from 1990 to 2050. The expected number of AMD cases in Iran will be near 5.5 million by 2050.
CONCLUSION
The prevalence of AMD in Iran was somewhere between the prevalence of Asians and Europeans. Given the aging trend of the Iranian community and an average annual percent change of 3.66%, it is indispensable to adopt preventive and screening policies to diminish the burden of the disease in the future decades.
Topics: Male; Female; Humans; Iran; Prevalence; Cross-Sectional Studies; Macular Degeneration; Blindness
PubMed: 38007475
DOI: 10.1186/s12886-023-03218-3 -
PharmacoEconomics Mar 2024Evidence on the socioeconomic burden associated with childhood visual impairment, severe visual impairment and blindness (VI/SVI/BL) is needed to inform economic...
BACKGROUND
Evidence on the socioeconomic burden associated with childhood visual impairment, severe visual impairment and blindness (VI/SVI/BL) is needed to inform economic evaluations of existing and emerging interventions aimed at protecting or improving vision. This study aimed to evaluate the quantity and quality of literature on resource use and/or costs associated with childhood VI/SVI/BL disorders.
METHODS
PubMed, Web of Science (Ovid), the National Health Service (NHS) Economic Evaluation Database and grey literature were searched in November 2020. The PubMed search was rerun in February 2022. Original articles reporting unique estimates of resource use or cost data on conditions resulting in bilateral VI/SVI/BL were eligible for data extraction. Quality assessment (QA) was undertaken using the Drummond checklist adapted for cost-of-illness (COI) studies.
RESULTS
We identified 31 eligible articles, 27 from the peer-reviewed literature and four from the grey literature. Two reported on resource use, and 29 reported on costs. Cerebral visual impairment and optic nerve disorders were not examined in any included studies, whereas retinopathy of prematurity was the most frequently examined condition. The quality of studies varied, with economic evaluations having higher mean QA scores (82%) compared to COI studies (77%). Deficiencies in reporting were seen, particularly in the clinical definitions of conditions in economic evaluations and a lack of discounting and sensitivity analyses in COI studies.
CONCLUSIONS
There is sparse literature on resource use or costs associated with childhood visual impairment disorders. The first step in addressing this important evidence gap is to ensure core visual impairment outcomes are measured in future randomised control trials of interventions as well as cohort studies and are reported as a discrete health outcome.
Topics: Infant, Newborn; Humans; Child; State Medicine; Cost of Illness; Infant, Premature; Cost-Benefit Analysis; Vision Disorders
PubMed: 37971639
DOI: 10.1007/s40273-023-01311-5 -
The American Journal of Occupational... Nov 2023Cortical or cerebral visual impairment (CVI), a leading cause of visual dysfunction in children across the globe, can result in delayed development of fine and gross...
IMPORTANCE
Cortical or cerebral visual impairment (CVI), a leading cause of visual dysfunction in children across the globe, can result in delayed development of fine and gross motor skills, functional mobility, and socialization, which affects all areas of occupation. No assessments are recommended for occupational therapy practitioners working with children with CVI.
OBJECTIVE
To appraise the measurement properties and clinical utility of CVI assessments appropriate for use by occupational therapy practitioners.
DATA SOURCES
MEDLINE via PubMed, Scopus, and Web of Science.
STUDY SELECTION AND DATA COLLECTION
We followed the COnsensus-based Standards for the selection of health Measurement INstruments (COSMIN) guidelines for systematic reviews of patient-reported outcome measures for relevant studies.
FINDINGS
A total of 590 records yielded 15 studies of the measurement properties of 12 assessment tools, 8 patient-reported outcome measures and 4 clinician-reported or performance-based outcome measures. We report on the quality of measurement properties of 10 of the 12 outcome measures. None had high-quality evidence of content validity, structural validity, or test-retest reliability. Most had indeterminate internal consistency as a result of a lack of confirmatory factor analysis. Three instruments demonstrated high quality and sufficient construct validity.
CONCLUSIONS AND RELEVANCE
On the basis of the COSMIN guidelines, all 12 outcome measures have the potential to be recommended but require further study before definitive recommendations can be made. What This Article Adds: This is the first systematic review of assessments of CVI feasible for use by occupational therapy practitioners. High-quality studies of measurement properties are lacking. Further examination of the measurement properties of outcome measures is required.
Topics: Child; Humans; Occupational Therapy; Patient Reported Outcome Measures; Psychometrics; Reproducibility of Results; Systematic Reviews as Topic; Vision Disorders
PubMed: 37971385
DOI: 10.5014/ajot.2023.050313 -
Special Care in Dentistry : Official... 2024Individuals with visual impairment (VI) are doubly disadvantaged by their lack of vision and poor oral hygiene (OH). Implementing oral health education (OHE)... (Review)
Review
INTRODUCTION
Individuals with visual impairment (VI) are doubly disadvantaged by their lack of vision and poor oral hygiene (OH). Implementing oral health education (OHE) interventions should be set as goals to improve OH status and prevent oral diseases. However, few studies have examined the specific teaching method of OH skills. This study aimed to identify the most influential OHE interventions enabling individuals with VI worldwide, especially those in countries where VI is most frequent, to maintain OH and improve knowledge and practices.
METHODS
An extensive literature review was conducted using the Preferred Reporting Items for Systematic Review and Meta-Analysis method. This study systematically searched electronic databases (PubMed via Medline, Cochrane, Embase, and Google Scholar) using expert-validated keywords, complemented by manual searches, to identify relevant articles published between April 1, 2012, and September 30, 2022.
RESULT
PICOS criteria were formulated for study inclusion. The bibliographical search identified 1485 articles, which were subsequently filtered. Two researchers separately screened the articles for eligibility and to reduce the risk of bias in the included studies. Finally, the most pertinent 21 articles were scrutinized for data synthesis.
CONCLUSION
Most studies identified combination methods, including customized educational demonstrations, as the best at improving OH status, knowledge, and practices. However, long-term, rigorously designed, and effective patient-centered communication trials, including those on innovative methods, are still needed for individuals with VI.
Topics: Humans; Health Education, Dental; Oral Hygiene; Vision Disorders; Dental Care for Disabled; Oral Health
PubMed: 37964052
DOI: 10.1111/scd.12940 -
Seminars in Ophthalmology Jan 2024To investigate the incidence and factors influencing the occurrence of metamorphopsia in patients with simple rhegmatogenous retinal detachment (RRD) after surgery. (Meta-Analysis)
Meta-Analysis Review
PURPOSES
To investigate the incidence and factors influencing the occurrence of metamorphopsia in patients with simple rhegmatogenous retinal detachment (RRD) after surgery.
METHODS
Relevant studies of metamorphopsia were identified by searching in PubMed, Embase, and Cochrane until August 2022. Meta-analysis of the incidence of metamorphopsia after rhegmatogenous retinal detachment surgery was performed using Review Manager 5.4 statistical software.
RESULTS
A total of 12 studies reported 1133 participants with 469 patients with postoperative metamorphopsia. The meta-analysis showed a higher incidence of metamorphopsia in macular-off cases compared with macular-on RRD (RR = 2.88, 95% CI: 2.35 to 3.52). The use of perfluorocarbon liquid (PFCL) during pars plana vitrectomy (PPV) reduced the incidence of metamorphopsia (RR = 0.61, 95% CI: 0.41 to 0.92). There was no evidence of any important difference in metamorphopsia between participants in the PPV group and the scleral buckling (SB) group (RR = 1.04, 95% CI: 0.82 to 1.33). There was little or no difference in metamorphopsia between gas and silicon oil (SO) in the PPV group (RR = 0.89, 95% CI: 0.69 to 1.13).
CONCLUSION
The incidence of postoperative metamorphopsia is higher in macular-off RRD, and PFCL should be a preferred choice to prevent postoperative metamorphopsia in macula-off RRD cases.
Topics: Humans; Retinal Detachment; Incidence; Visual Acuity; Scleral Buckling; Vision Disorders; Vitrectomy; Fluorocarbons; Retrospective Studies; Treatment Outcome
PubMed: 37940621
DOI: 10.1080/08820538.2023.2279221 -
Pediatric Research Feb 2024This meta-analysis aimed to identify the near- and long-term neurodevelopmental prognoses of preterm or low birth weight (LBW) infants with different severities of... (Meta-Analysis)
Meta-Analysis
BACKGROUND
This meta-analysis aimed to identify the near- and long-term neurodevelopmental prognoses of preterm or low birth weight (LBW) infants with different severities of intraventricular hemorrhage (IVH).
METHODS
Four databases were searched for observational studies that were qualified using the Newcastle-Ottawa Scale.
RESULTS
37 studies involving 32,370 children were included. Compared to children without IVH, children with mild IVH had higher incidences of neurodevelopmental impairment (NDI), cerebral palsy (CP), motor/cognitive delay, hearing impairment and visual impairment, as well as lower scores of the mental development index (MDI) and psychomotor development (PDI). Moreover, compared to mild IVH, severe IVH increased susceptibilities of children to NDI, motor delay, CP, hearing impairment and visual impairment, with worse performances in MDI, PDI, motor score and IQ. Mild IVH was not associated with seizures or epilepsy.
CONCLUSIONS
Adverse neurodevelopmental outcomes positively associated with the occurrence and severity of IVH in preterm or LBW infants, providing evidence for counseling and further decisions regarding early therapeutic interventions.
IMPACT
Adverse neurodevelopmental outcomes later in life were closely associated with the occurrence and severity of IVH in preterm or LBW infants. Our results highlight the importance to make prediction of the neurodevelopmental outcomes of children born preterm or LBW with a history of IVH, which will guide affected parents when their children need clinical interventions to reach the full potential. We emphasize the importance of identifying specific developmental delays that may exist in children with IVH, providing detailed information for the development of comprehensive intervention measures.
Topics: Infant, Newborn; Infant; Child; Humans; Infant, Premature; Infant, Premature, Diseases; Infant, Low Birth Weight; Cerebral Hemorrhage; Cerebral Palsy; Hearing Loss; Vision Disorders
PubMed: 37935882
DOI: 10.1038/s41390-023-02877-8 -
European Archives of... Mar 2024This study is a systematic review of the literature which seeks to evaluate auditory and quality of life (QOL) outcomes of cochlear implantation in patients with Usher... (Review)
Review
PURPOSE
This study is a systematic review of the literature which seeks to evaluate auditory and quality of life (QOL) outcomes of cochlear implantation in patients with Usher syndrome.
METHODS
Systematic review of studies indexed in Medline via PubMed, Ovid EMBASE, Web of Science, CENTRAL and clinicaltrials.gov was performed up to March 9th 2022, conducted in accordance with the PRISMA statement. Patient demographics, comorbidity, details of cochlear implantation, auditory, and QOL outcomes were extracted and summarized.
RESULTS
33 studies reported over 217 cochlear implants in 187 patients with Usher syndrome, comprising subtypes 1 (56 patients), 2 (9 patients), 3 (23 patients), and not specified (99 patients). Auditory outcomes included improved sound detection, speech perception, and speech intelligibility. QOL outcomes were reported for 75 patients, with benefit reported in the majority.
CONCLUSIONS
Many patients with Usher syndrome develop improved auditory outcomes after cochlear implantation with early implantation being an important factor.
Topics: Humans; Cochlear Implantation; Usher Syndromes; Quality of Life; Treatment Outcome; Cochlear Implants; Speech Perception
PubMed: 37930386
DOI: 10.1007/s00405-023-08304-2 -
International Journal of Dermatology Dec 2023Since extracutaneous melanocytes in the eye may also be affected in vitiligo, a systematic review was conducted to explore the ocular manifestations of vitiligo. Studies...
Since extracutaneous melanocytes in the eye may also be affected in vitiligo, a systematic review was conducted to explore the ocular manifestations of vitiligo. Studies point to a higher risk of ocular findings in periorbital vitiligo. Dry eye disease is the most reported ocular abnormality in vitiligo. Additionally, several small studies have found potential links to uveitis and glaucoma. Various other chorioretinal pigmentary changes are also reported, but without accompanying functional consequences or changes in vision. Although there is a need for larger studies to further elucidate these associations, dermatologists should be aware of potential ocular comorbidities in vitiligo and refer to ophthalmology accordingly.
Topics: Humans; Vitiligo; Dermatologists; Pigmentation Disorders; Eye; Glaucoma
PubMed: 37919864
DOI: 10.1111/ijd.16883 -
BMJ Mental Health Oct 2023People with severe mental illness (SMI) have a higher prevalence of several chronic physical health conditions, and the prevalence of physical multimorbidity is expected... (Meta-Analysis)
Meta-Analysis
BACKGROUND
People with severe mental illness (SMI) have a higher prevalence of several chronic physical health conditions, and the prevalence of physical multimorbidity is expected to rise. The aim of this study was to assess the strength of the association between SMI and physical multimorbidity.
STUDY SELECTION AND ANALYSIS
We systematically searched PubMed/Medline, Scopus, Embase, Web of Science, PsycINFO and the behavioural sciences collection databases, from inception to 31 January 2023, for studies that investigated the association between SMI and physical multimorbidity. Humans of any age either clinically diagnosed and/or currently receiving treatment for SMI, specified as schizophrenia (and related psychotic disorders), bipolar disorder and psychotic depression, were eligible. Data from studies selected for inclusion were converted into ORs, with a subsequent meta-analysis conducted.
FINDINGS
We included 19 studies with a total of 194 123 patients with SMI with different diagnoses and drawn from the general population. The pooled OR for physical multimorbidity in people with versus without SMI was 1.84 (95% CI 1.33 to 2.54), with the analysis indicating a high level of heterogeneity (98.38%). The other 15 studies included in the systematic review for which it was not possible to conduct a meta-analysis showed strong associations between SMI and physical multimorbidity.
CONCLUSIONS
The current evidence highlights the link between SMI and physical multimorbidity. A multidisciplinary approach is now urgent to develop the best models of services tailored to patients with SMI with physical multimorbidities to improve physical, mental and social outcomes. CRD42023395165.
Topics: Humans; Multimorbidity; Mental Disorders; Psychotic Disorders; Schizophrenia; Bipolar Disorder; Chronic Disease
PubMed: 37907331
DOI: 10.1136/bmjment-2023-300870