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Ophthalmic Genetics Feb 2022-related disorders are a rare group of intellectual disability syndromes with a broad range of phenotypic characteristics. The phenotypic spectrum of -related disorders...
BACKGROUND
-related disorders are a rare group of intellectual disability syndromes with a broad range of phenotypic characteristics. The phenotypic spectrum of -related disorders currently includes X-Linked Ohdo Syndrome, Lujan-Fryns Syndrome (LS), and FG syndrome type 1 (FG), also known as Opitz-Kaveggia Syndrome. The gene encodes the largest component of the mediator complex of RNA polymerase II, which is critical for recruiting activators and repressors to regulate the transcription of genes critical to growth, development, and differentiation.
METHODS
We performed a systematic literature review of previously published cases to highlight the key ocular features in individuals with -related disorders. In addition, we present a new case of a female patient with a pathogenic c. 3866A>G, p.Q1289R variant. Ocular manifestations are not uncommon in -related disorders, but have not been characterized in literature reports. Commonly reoccurring reported eye and ocular adnexa features within the spectrum include ptosis, downslanting palpebral fissures, and hypertelorism. Other less common findings include strabismus, astigmatism, and optic nerve hypoplasia.
RESULTS
Our patient presented with developmental delay, mild hypotonia and dysmorphic features including frontal bossing, high arched palate, and syndactyly of the 2 and 3 toes bilaterally.
DISCUSSION
Ocular manifestations identified in this patient included intermittent esotropia, hyperopic astigmatism, epicanthal folds and ptosis bilaterally.
Topics: Astigmatism; Female; Humans; Intellectual Disability; Mediator Complex
PubMed: 34670449
DOI: 10.1080/13816810.2021.1989601 -
Frontiers in Medicine 2023To investigate the effects of postoperative astigmatism on the visual outcomes following presbyopia-correcting surgery with multifocal intraocular lens implantation.
PURPOSE
To investigate the effects of postoperative astigmatism on the visual outcomes following presbyopia-correcting surgery with multifocal intraocular lens implantation.
METHODS
A comprehensive literature search was conducted using PubMed, Embase, and Web of Science for articles published until January 2023. Additionally, we included retrospective case series and prospective comparative studies. The combined mean difference (MD) with 95% confidence intervals (CI) and odds ratio (OR) with 95% CI were used to express continuous and categorical outcomes, respectively. All statistical analyses were performed using Review Manager (version 5.4.1).
RESULTS
We included nine eligible studies that analyzed 3,088 eyes. The proportion of eyes with useful postoperative visual acuity (logMAR ≤ 0.20) and residual astigmatism significantly differed with respect to the magnitude of astigmatism and presence/absence of blurred vision ( < 0.001 for both). Additionally, the mean uncorrected distance visual acuity (MD, 0.14; 95% CI, 0.06 to 0.21; = 0.0003) and uncorrected intermediate visual acuity (MD, 0.07; 95% CI, 0.00 to 0.13; = 0.04), but not the uncorrected near visual acuity (MD, 0.02; 95%CI-0.01 to 0.05; = 0.17), significantly differed according to the magnitude of astigmatism.
CONCLUSION
Astigmatism, even at low levels (≥ 0.5D), has a significant effect on visual outcomes, especially on UDVA and UIVA, following multifocal intraocular lens implantation. Accurate preoperative and postoperative evaluation of astigmatism is important.
PubMed: 38089878
DOI: 10.3389/fmed.2023.1214714 -
European Journal of Ophthalmology May 2021The aim of this meta-analysis is to compare femtosecond laser-enabled keratoplasty with conventional penetrating keratoplasty regarding postoperative astigmatism, visual... (Meta-Analysis)
Meta-Analysis
PURPOSE
The aim of this meta-analysis is to compare femtosecond laser-enabled keratoplasty with conventional penetrating keratoplasty regarding postoperative astigmatism, visual functions, graft rejection, graft failure, and complications.
METHODS
Eligible studies were retrieved from five mainstream electronic databases, including PubMed, Embase, Ovid MEDLINE, Cochrane Library, and ClinicalTrial.gov. Postoperative topographic astigmatism was set as the primary outcome, and best-corrected visual acuity, spherical equivalent, endothelial cell density, graft rejection, graft failure, and complications were chosen as the secondary outcomes. Standard mean difference and risk ratio were the size effects for continuous data and binomial data, respectively. The data were pooled through either the random-effects model or the fixed-effects model based on data heterogeneity. Moreover, subgroup analyses were conducted when the heterogeneity occurred distinctly (I > 50%).
RESULTS
A total of seven comparative studies were included. The pooled standard mean difference (-0.32, 95% confidence interval: -0.74 to 0.10) showed that femtosecond laser-enabled keratoplasty was not superior over conventional penetrating keratoplasty to decrease postoperative topographic astigmatism (p = 0.14). However, best-corrected visual acuity after femtosecond laser-enabled keratoplasty was significantly better than that after conventional penetrating keratoplasty (p = 0.00, standard mean difference: -0.23, 95% confidence interval: -0.37 to -0.10). Furthermore, endothelial cell density after femtosecond laser-enabled keratoplasty was preserved significantly better (p = 0.03, standard mean difference: 0.63, 95% confidence interval: 0.07-1.20). Moreover, spherical equivalent, graft rejection, graft failure, and complications represented no distinct differences between femtosecond laser-enabled keratoplasty and conventional penetrating keratoplasty (p > 0.05).
CONCLUSION
Femtosecond laser-enabled keratoplasty may not be superior over conventional penetrating keratoplasty in decreasing postoperative topographic astigmatism, but might have advantages to achieve best-corrected visual acuity and endothelial cell density preservation. In addition, the two techniques seem to be comparable regarding spherical equivalent, graft rejection/failure, and complications.
Topics: Astigmatism; Corneal Transplantation; Humans; Keratoplasty, Penetrating; Lasers; Treatment Outcome; Visual Acuity
PubMed: 32223431
DOI: 10.1177/1120672120914488 -
Journal of Clinical Medicine Feb 2022The aim of this study was to describe the ophthalmic abnormalities and their prevalence in craniosynostosis prior to craniofacial surgery. (Review)
Review
BACKGROUND
The aim of this study was to describe the ophthalmic abnormalities and their prevalence in craniosynostosis prior to craniofacial surgery.
METHODS
A systematic search was conducted on Medline OVID, Embase, Cochrane, Google Scholar, Web of Science Core Collection. Inclusion criteria were English papers, children aged <18 years with non-syndromic and syndromic craniosynostosis, case reports, case series, and case-control studies. A system of domains was established consisting of an anatomic and functional ophthalmic domain. A meta-analysis of single proportions was carried out using random effects model and pooled mean proportions with 95% confidence intervals (CI) were calculated.
RESULTS
Thirty-two papers analyzing 2027 patients were included. Strabismus was the most common anomaly in non-syndromic craniosynostosis: Horizontal strabismus was highest prevalent in unicoronal craniosynostosis (UCS) 19% (95% CI 9-32), followed by vertical strabismus 17% (95% CI 5-33). In syndromic craniosynostosis, horizontal strabismus was most prevalent in Crouzon syndrome 52% (95 CI 26-76), followed by Apert syndrome 50% (95% CI 42-58). Vertical strabismus was most prevalent in Saethre-Chotzen 60% followed by Muenke's syndrome 36%. Furthermore, astigmatism was the second most reported outcome in non-syndromic craniosynostosis and highest prevalent in UCS 35% (95% CI 21-51). In syndromic craniosynostosis, astigmatism was most frequently seen in Crouzon syndrome 43% (95% CI 22-65), followed by Apert syndrome 34% (95% CI 14-58). Moreover, in syndromic craniosynostosis, 5-40% had a decrease in visual acuity (VA) ≤ 0.3 LogMAR in the better eye and 11-65% had a VA ≤ 0.3 LogMAR in at least one eye.
DISCUSSION
This review demonstrates the high prevalence of ocular anomalies in non-syndromic and syndromic craniosynostosis. A multidisciplinary and systematic approach is needed for the screening and optimal treatment of these conditions in a timely manner.
PubMed: 35207332
DOI: 10.3390/jcm11041060 -
Journal of Clinical Medicine Jun 2024: The number of corneal transplants is rising, with the aim to treat a spectrum of diseases ranging from dystrophies to corneal opacities caused by trauma or chemical... (Review)
Review
: The number of corneal transplants is rising, with the aim to treat a spectrum of diseases ranging from dystrophies to corneal opacities caused by trauma or chemical burns. Refractive outcomes after this procedure are often impossible to predict and associated with high levels of astigmatism. However, there are many techniques that affect the reduction of astigmatism and improve the quality of life of patients. : The aim was to compare the improvement in postoperative visual acuity (logMAR) and amount of corneal astigmatism (Diopters) after corneal keratoplasty in patients who additionally underwent a surgical procedure, which affects the reduction in postoperative astigmatism, and to determine the most effective method. A thorough search was carried out across online electronic databases including PubMed, Embrase, Ovid MEDLINE, Scopus, and Web of Science, using combinations containing the following phrases: postoperative astigmatism, post-keratoplasty astigmatism, anterior lamellar keratoplasty (ALK), deep anterior lamellar keratoplasty (DALK), posterior lamellar keratoplasty, endothelial keratoplasty (EK), penetrating keratoplasty (PK), corneal transplant, keratoplasty, refractive surgery, kerato-refractive surgery, laser in situ keratomileusis (LASIK), and femtosecond LASIK. This was to determine all English-language publications that discuss refractive operations for postoperative or post-keratoplasty astigmatism. These bibliographies were searched for English-language publications published between 2010 and 2023. We proceeded to review each detected record's reference list. Study characteristics such as study design, sample size, participant information, operations performed, and clinical outcomes were all extracted. The Comprehensive Meta-Analysis software (version 3.3.070, 2014) was used to perform the analysis. The threshold of 0.05 for -values was considered statistically significant. All effect sizes are reported as standardized differences (Std diff) in means with a 95% confidence interval (CI) and visualized graphically as forest plots. Publication bias is presented as a funnel plot of standard error by Std diff in means. Four methods were used to evaluate the heterogeneity among the studies: Q-value, I, chi-square (χ), and tau-squared. We included 21 studies that randomized 1539 eyes that underwent corneal transplantation surgery either by PKP, DALK, or DSEAK techniques. The results showed the most significant improvement in the visual acuity and significant decrease in the corneal astigmatism after laser surgery procedures, like femtosecond-assisted keratotomy after DALK and PKP and LASIK after DSEAK.
PubMed: 38893017
DOI: 10.3390/jcm13113306 -
Journal of Global Health 2021To investigate the prevalence and time trends of refractive error (RE) among Chinese children under 18 years old. (Meta-Analysis)
Meta-Analysis
BACKGROUND
To investigate the prevalence and time trends of refractive error (RE) among Chinese children under 18 years old.
METHODS
PubMed, Embase, Web of Science were searched for articles that estimated prevalence of RE in Chinese children. Data of identified eligible studies was extracted by two investigators independently. Pooled prevalence of RE and its 95% confidence interval (95% CI) and the time trends of RE were investigated using Meta-analysis methods.
RESULTS
Of the 41 studies covering 1 051 784 subjects, the pooled prevalence of myopia, high myopia, hyperopia and astigmatism in Chinese children was 38.0% (95% confidence interval (CI) = 35.1%-41.1%), 2.8% (95% CI = 2.3%-3.4%), 5.2% (95% CI = 3.1%-8.6%) and 16.5% (95% CI = 12.3%-21.8%), respectively. Subgroup analysis show that children living in urban were at higher risk of RE. Prevalence of myopia and hyperopia were higher in Northern China compared with Southern China and high myopia and astigmatism were higher in Hong Kong, Macau and Taiwan than in mainland China. Regression analysis showed an upward trend in myopia and hyperopia and a downward trend in high myopia and astigmatism with years.
CONCLUSIONS
The prevalence of RE is higher in urban areas than in rural for Chinese children. The much higher prevalence of myopia and astigmatism in China compared with foreign countries indicates the important role played by environment and genetic factors. Considering the large magnitude of refractive errors, much more attention should still be paid to RE prevention and treatment strategy development in China.
Topics: Child; China; Humans; Prevalence; Refractive Errors; Time Factors
PubMed: 34327000
DOI: 10.7189/jogh.11.08006 -
Annals of Palliative Medicine Jan 2022Cataract is one of the common eye diseases. At present, Phacoemulsification combined with traditional intraocular lens (IOL) implantation can achieve satisfactory... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Cataract is one of the common eye diseases. At present, Phacoemulsification combined with traditional intraocular lens (IOL) implantation can achieve satisfactory rejuvenation effects. However, the correction of corneal astigmatism is limited, while Toric IOL implantation can provide good astigmatism correction treatment.
METHODS
We retrieved randomized controlled trials (RCTs) on the treatment of cataracts published in the PubMed, EBSCO, MEDLINE, EMBASE, Science Direct, Cochrane Library, China National Knowledge Infrastructure (CNKI), Wanfang, and Weipu databases. Professional journals were searched manually to avoid omissions. The research subject search terms included cataract, astigmatism, IOL, and intraocular lens. The observation indicators search terms included uncorrected distance visual acuity (UDVA), best-corrected distance visual acuity (BDVA), residual corneal astigmatism, and cataract cure rate.
RESULTS
A total of 12 articles were included. The articles were tested for heterogeneity of UDVA measured using the Logarithm of Mininal Angle Resolution (LogMAR) visual acuity chart, and the results showed that Chi-squared test (Chi2) =75.21, degree of freedom (df) =11, and I2=85%>50%, so the random effects model (REM) was adopted for analysis. The results indicated that the differences between the Toric and Non-Toric IOL groups statistically significant, and the Toric IOL group had a significant therapeutic effect [Z =2.18, mean difference (MD) =-0.05, 95% confidential interval (CI): -0.09, -0.00, P=0.03]. The fixed effects model (FEM) was adopted to analyze the determination of BDVA by LogMAR visual acuity chart in 6 articles. The results suggested that the difference between the Toric IOL and non-Toric IOL groups was not statistically significant (Z =0.29, MD =-0.00, 95% CI: -0.02, 0.01, P=0.77). Heterogeneity analysis was performed on three articles in terms of residual corneal astigmatism, which showed that Chi2=75.55, df =3, I2=96%>50%, and P<0.00001. The REM analysis results revealed that the difference between the two groups was not statistically significant, and the Toric IOL group had low residual corneal astigmatism (Z =1.35, MD =-0.34, 95% CI: -0.83, 0.15, P=0.18).
DISCUSSION
The meta-analysis results confirmed that Toric IOL implantation showed obvious advantages in improving UDVA and corneal residual astigmatism in cataract patients.
Topics: Astigmatism; Cataract; Humans; Lens Implantation, Intraocular; Lenses, Intraocular; Phacoemulsification
PubMed: 35144417
DOI: 10.21037/apm-21-3767 -
Graefe's Archive For Clinical and... Nov 2022This systematic review aims to compare corneal astigmatism correction in cataract surgery through corneal relaxing incision, manually and femtosecond laser assisted. (Review)
Review
PURPOSE
This systematic review aims to compare corneal astigmatism correction in cataract surgery through corneal relaxing incision, manually and femtosecond laser assisted.
METHODS
The study was performed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement recommendations. We used PubMed, Scopus, and Web of Science (WOS) as databases from January 2010 to March 30, 2021. Patients with keratoconus, corneal ectasia, and a previous history of eye surgery were excluded because our aim was to analyze only healthy eyes.
RESULTS
A total of 1025 eyes were evaluated from 946 patients (mean age was 68.90 ± 5.12) in manual incision group articles, while 1905 eyes of 1483 patients (mean age was 65.05 ± 4.57) were evaluated in femtosecond laser arcuate keratotomy (FLAK) articles. The mean uncorrected distance visual acuity (UDVA) was 0.19 ± 0.12 and 0.15 ± 0.05 logMAR for manual incision and FLAK articles, respectively (p = 0.39). The mean correction index (CI) was similar in both groups: 0.77 ± 0.18 in manual incision and 0.79 ± 0.17 in femtosecond laser assisted incision (p = 0.70). Refractive stability was found after 3 months and no serious complications were reported during the follow-up in any group.
CONCLUSION
Both techniques are safe and moderately effective in corneal astigmatism correction in cataract surgery. FLAK represents a more precise and predictable approach. However, since visual and refractive outcomes appear to be similar in both cases, the cost-benefit analysis is controversial.
Topics: Humans; Middle Aged; Aged; Astigmatism; Cataract Extraction; Keratoplasty, Penetrating; Refraction, Ocular; Corneal Diseases; Cataract; Lasers; Corneal Topography
PubMed: 35713710
DOI: 10.1007/s00417-022-05728-0 -
Therapeutic Advances in Ophthalmology 2024New developments in artificial intelligence, particularly with promising results in early detection and management of keratoconus, have favorably altered the natural... (Review)
Review
BACKGROUND
New developments in artificial intelligence, particularly with promising results in early detection and management of keratoconus, have favorably altered the natural history of the disease over the last few decades. Features of artificial intelligence in different machine such as anterior segment optical coherence tomography, and femtosecond laser technique have improved safety, precision, effectiveness, and predictability of treatment modalities of keratoconus (from contact lenses to keratoplasty techniques). These options ingrained in artificial intelligence are already underway and allow ophthalmologist to approach disease in the most non-invasive way.
OBJECTIVES
This study comprehensively describes all of the treatment modalities of keratoconus considering machine learning strategies.
DESIGN
A multidimensional comprehensive systematic narrative review.
DATA SOURCES AND METHODS
A comprehensive search was done in the five main electronic databases (PubMed, Scopus, Web of Science, Embase, and Cochrane), without language and time or type of study restrictions. Afterward, eligible articles were selected by screening the titles and abstracts based on main mesh keywords. For potentially eligible articles, the full text was also reviewed.
RESULTS
Artificial intelligence demonstrates promise in keratoconus diagnosis and clinical management, spanning early detection (especially in subclinical cases), preoperative screening, postoperative ectasia prediction after keratorefractive surgery, and guiding surgical decisions. The majority of studies employed a solitary machine learning algorithm, whereas minor studies assessed multiple algorithms that evaluated the association of various keratoconus staging and management strategies. Last but not least, AI has proven effective in guiding the implantation of intracorneal ring segments in keratoconus corneas and predicting surgical outcomes.
CONCLUSION
The efficient and widespread clinical translation of machine learning models in keratoconus management is a crucial goal of potential future approaches to better visual performance in keratoconus patients.
TRIAL REGISTRATION
The article has been registered through PROSPERO, an international database of prospectively registered systematic reviews, with the ID: CRD42022319338.
PubMed: 38516169
DOI: 10.1177/25158414241232258 -
International Journal of Oral and... Sep 2020Ocular anomalies may occur in craniofacial microsomia (CFM). The aim of this systematic review was to review the literature on ocular anomalies and their incidence, in...
Ocular anomalies may occur in craniofacial microsomia (CFM). The aim of this systematic review was to review the literature on ocular anomalies and their incidence, in order to estimate the need for ophthalmological screening in CFM patients. Online databases were searched, and data on the number of patients, type and incidence of ocular anomalies, and visual acuity were extracted. Four subgroups of ocular and adnexal anomalies were identified, to provide an overview of the different anomalies. Twenty-five papers analysing 1419 patients in total were included. Ocular anomalies were documented in 6.7-100% of patients. The most reported type I ocular anomalies were eyelid coloboma, lipodermoids, and orbital dystopia. The most reported type II ocular anomalies were epibulbar dermoid, microphthalmia, and anophthalmia. Ptosis and strabismus were the most reported type III anomalies, and irregular astigmatism was the most reported type IV ocular anomaly. Visual impairment in general was reported in 8-71.4% of patients, with severe visual impairment in 11.1-71.4% and amblyopia in 16.3%. This study provides a detailed overview of ocular anomalies in CFM and their prevalence. Furthermore, we propose a new classification to organize ocular anomalies into four clinically relevant subtypes. Finally, the high prevalence of ocular anomalies and visual impairment in this study suggests that CFM patients should undergo ophthalmological screening at least once during the sensitive period.
Topics: Coloboma; Face; Goldenhar Syndrome; Humans; Prevalence; Strabismus
PubMed: 32217034
DOI: 10.1016/j.ijom.2020.03.003