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JMIR AI Mar 2024Identification and referral of at-risk patients from primary care practitioners (PCPs) to eye care professionals remain a challenge. Approximately 1.9 million Americans...
Machine Learning Methods Using Artificial Intelligence Deployed on Electronic Health Record Data for Identification and Referral of At-Risk Patients From Primary Care Physicians to Eye Care Specialists: Retrospective, Case-Controlled Study.
BACKGROUND
Identification and referral of at-risk patients from primary care practitioners (PCPs) to eye care professionals remain a challenge. Approximately 1.9 million Americans suffer from vision loss as a result of undiagnosed or untreated ophthalmic conditions. In ophthalmology, artificial intelligence (AI) is used to predict glaucoma progression, recognize diabetic retinopathy (DR), and classify ocular tumors; however, AI has not yet been used to triage primary care patients for ophthalmology referral.
OBJECTIVE
This study aimed to build and compare machine learning (ML) methods, applicable to electronic health records (EHRs) of PCPs, capable of triaging patients for referral to eye care specialists.
METHODS
Accessing the Optum deidentified EHR data set, 743,039 patients with 5 leading vision conditions (age-related macular degeneration [AMD], visually significant cataract, DR, glaucoma, or ocular surface disease [OSD]) were exact-matched on age and gender to 743,039 controls without eye conditions. Between 142 and 182 non-ophthalmic parameters per patient were input into 5 ML methods: generalized linear model, L1-regularized logistic regression, random forest, Extreme Gradient Boosting (XGBoost), and J48 decision tree. Model performance was compared for each pathology to select the most predictive algorithm. The area under the curve (AUC) was assessed for all algorithms for each outcome.
RESULTS
XGBoost demonstrated the best performance, showing, respectively, a prediction accuracy and an AUC of 78.6% (95% CI 78.3%-78.9%) and 0.878 for visually significant cataract, 77.4% (95% CI 76.7%-78.1%) and 0.858 for exudative AMD, 79.2% (95% CI 78.8%-79.6%) and 0.879 for nonexudative AMD, 72.2% (95% CI 69.9%-74.5%) and 0.803 for OSD requiring medication, 70.8% (95% CI 70.5%-71.1%) and 0.785 for glaucoma, 85.0% (95% CI 84.2%-85.8%) and 0.924 for type 1 nonproliferative diabetic retinopathy (NPDR), 82.2% (95% CI 80.4%-84.0%) and 0.911 for type 1 proliferative diabetic retinopathy (PDR), 81.3% (95% CI 81.0%-81.6%) and 0.891 for type 2 NPDR, and 82.1% (95% CI 81.3%-82.9%) and 0.900 for type 2 PDR.
CONCLUSIONS
The 5 ML methods deployed were able to successfully identify patients with elevated odds ratios (ORs), thus capable of patient triage, for ocular pathology ranging from 2.4 (95% CI 2.4-2.5) for glaucoma to 5.7 (95% CI 5.0-6.4) for type 1 NPDR, with an average OR of 3.9. The application of these models could enable PCPs to better identify and triage patients at risk for treatable ophthalmic pathology. Early identification of patients with unrecognized sight-threatening conditions may lead to earlier treatment and a reduced economic burden. More importantly, such triage may improve patients' lives.
PubMed: 38875582
DOI: 10.2196/48295 -
Frontiers in Genetics 2024To determine the genetic causes of monogenic inherited diseases in a couple using clinical whole exome sequencing (WES) and advise on their reproductive choices.
OBJECTIVE
To determine the genetic causes of monogenic inherited diseases in a couple using clinical whole exome sequencing (WES) and advise on their reproductive choices.
METHODS
WES was applied to a couple seeking reproductive advice, the female with short stature and the male with congenital cataracts.
RESULTS
(1) The woman exhibited a 13.8 Kb heterozygous deletion at chrX: 591590-605428 (hg19). This region corresponds to exons 2-6 of the short-stature homeobox-containing () gene (NM000451). Associated diseases involving the gene range from severe Leri-Weill dyschondrosteosis to mild nonspecific short stature. Meanwhile, further validation using a quantitative reverse transcription polymerase chain reaction assay confirmed the heterozygous deletion of the gene in the proband, as well as other family members with similar clinical characteristics (the proband's mother, aunt, and cousin). Multiple pathogenic reports of this variant have been included in the HGMD database. Per the American College of Medical Genetics and Genomics (ACMG) classification criteria, this deletion is classified as pathogenic. (2) For the male patient, a heterozygous variant was detected in the gene: NM004076: c.226G>A (p.Gly76R). Variants in the gene can cause Cataract 22 (OMIM: 609741). At present, this variant locus is not included in databases such as the gnomAD, while both SIFT and PolyPhen2 deem this locus 'damaging'. Moreover, further validation by Sanger sequencing confirmed that the variant was inherited from the male patient's mother, who also had cataracts. According to ACMG standards and guidelines, the c.226G>A (p.Gly76Arg) variant in the gene is classified as having 'uncertain significance'.
CONCLUSION
WES identified pathogenic variants in both individuals, suggesting a 25% chance of a healthy child naturally. Third-generation assisted reproductive techniques are recommended to minimize the risk of affected offspring.
PubMed: 38873112
DOI: 10.3389/fgene.2024.1364769 -
Orphanet Journal of Rare Diseases Jun 2024The low prevalence of rare diseases poses a significant challenge in advancing their understanding. This study aims to delineate the clinical and genetic characteristics...
BACKGROUND
The low prevalence of rare diseases poses a significant challenge in advancing their understanding. This study aims to delineate the clinical and genetic characteristics of patients with rare eye diseases (RED) enrolled in the Spanish Rare Diseases Patient Registry.
METHODS
A total of 864 patients from the registry database were included. Diseases were categorized into inherited retinal dystrophies (n=688); anterior segment diseases (n=48); congenital malformations (n=27); and syndromic diseases with ocular involvement including muscular (n=46), neurological (n=34), or metabolic (n=13); inflammatory diseases (n=4); and tumors (n=4). Data on visual acuity (VA) and/or visual field (VF), symptoms and signs, concurrent diseases in syndromic cases, age of onset and at diagnosis, affected genes, disability rating, inability to work and dependency grade recognition were collected.
RESULTS
A mean diagnostic delay of 7 years from symptom onset was observed. Commonly reported symptoms included photophobia, night blindness, and progressive vision loss (≥57% of patients). Cataract was the most prevalent secondary disease (46%), with pseudophakia being the most common ocular surgery (26%). Hearing loss and cardiovascular diseases were the most prevalent concurrent systemic diseases (≥13%). Certificates of disability, incapacity for work, and dependency were held by 87%, 42%, and 19% of patients, respectively. Among the 719 patients with available VA data, 193 (27%) were blind, and 188 (26%) had moderate to severe visual impairment. Over half of the patients (54%) exhibited VF defects, and 216 (25%) had concentric contraction ≤5° or abolished VF. Most had genetic diseases with autosomal recessive (55%), autosomal dominant (30%), X-linked (9%), and mitochondrial (6%) patterns. One patient had mutations in both recessive USH2A and dominant RHO genes simultaneously. Of the 656 patients (75.7%) who underwent genetic testing, only 461 (70.3%) received a positive result (pathogenic or likely pathogenic mutations explaining the phenotype). We found 62 new gene variants related to RED not previously reported in databases of genetic variants related to specific phenotypes.
CONCLUSIONS
This study delineates the clinical and genotypic profiles of RED in Spain. Genetic diseases, particularly retinal disorders, predominate, but a significant proportion of affected patients remain genetically undiagnosed, hindering potential gene therapy endeavors. Despite notable improvements in reducing diagnosis delays, it is still remarkable. RED frequently lead to disability and blindness among young populations.
Topics: Humans; Male; Female; Eye Diseases; Registries; Spain; Adult; Rare Diseases; Middle Aged; Adolescent; Child; Young Adult; Child, Preschool; Aged; Infant; Visual Acuity; Retinal Dystrophies
PubMed: 38872169
DOI: 10.1186/s13023-024-03242-6 -
Biomedical Optics Express Jun 2024This study presents the fabrication and evaluation of a sinusoidal extended depth-of-focus (EDoF) intraocular lens (IOL) based on our previously proposed design...
This study presents the fabrication and evaluation of a sinusoidal extended depth-of-focus (EDoF) intraocular lens (IOL) based on our previously proposed design approach. The power, through-focus MTF, and surface profile were measured using commercial instruments. Through-focus images of a United States Air Force (USAF) 1951 resolution target formed by the fabricated IOL were compared with Symfony and AR40E under monochromatic and polychromatic light using optical bench testing. Simulations assessed visual acuity (VA) of a pseudophakic model eye with the EDoF IOL, including evaluation of tilt and decentration effects. Results indicate that the base power, add power, and the through-focus MTF@50 lp/mm of the fabricated IOL at a 3 mm pupil size align with the design specifications. The extended-depth-of-focus and imaging performance for the far vision of the fabricated IOL under both monochromatic and polychromatic light conditions at a 3.0 mm pupil diameter is comparable to that of Symfony. In addition, the fabricated IOL exhibits a similar extended-depth-of-focus for three discrete wavelengths. The pseudophakic model eye with the designed EDoF IOL demonstrates a VA exceeding 0.1 logMAR within a defocus range of 2.44 D. The VA is tolerant to both IOL tilt and decentration. These findings demonstrate the promising potential of the sinusoidal EDoF IOL design for future applications in cataract surgery.
PubMed: 38867771
DOI: 10.1364/BOE.521105 -
Journal of Global Health Jun 2024Asia accounts for more than half of the world's population and carries a substantial proportion of the global burden of blindness and vision impairment. Characterising...
BACKGROUND
Asia accounts for more than half of the world's population and carries a substantial proportion of the global burden of blindness and vision impairment. Characterising this burden, as well as its causes and determinants, could help with devising targeted interventions for reducing the occurrence of blindness and visual impairment.
METHODS
Using the Global Burden of Disease Study 2019 database, we retrieved data on the number of disability-adjusted life years (DALYs); crude and age-standardised rates; and the prevalence (with 95% uncertainty intervals (95%UIs)) of blindness and vision loss due to six causes (age-related macular degeneration, cataracts, glaucoma, near-vision impairment, refractive error, and other vision loss) for Asian countries for the period between 1990 and 2019. We defined DALYs as the sum of the years lost due to disability and years of life lost, and calculated age-standardised figures for the number of DALYs and prevalence by adjusting for population size and age structure. We then evaluated the time trend of the disease burden and conducted subgroup analyses by gender, age, geographic locations, and socio-demographic index (SDI).
RESULTS
In 2019, the DALYs and prevalence of blindness and vision loss had risen by 90.1% and 116% compared with 1990, reaching 15.84 million DALYs (95% UI = 15.83, 15.85) and 506.71 million cases (95% UI = 506.68, 506.74). Meanwhile, the age-standardised rate of DALYs decreased from 1990 to 2019. Cataracts, refractive error, and near vision impairment were the three most common causes. South Asia had the heaviest regional disease burden (age-standardised rate of DALYs = 517 per 100 000 population; 95% UI = 512, 521). Moreover, the burden due to cataracts ranked high in most Asian populations. Being a woman; being older; and having a lower national SDI were factors associated with a greater vision loss burden.
CONCLUSIONS
The burden due to vision loss remains high in Asian populations. Cataracts, refractive error, and near vision loss were the primary causes of blindness and vision loss. Greater investment in ocular disease prevention and care by countries with lower socioeconomic status is needed, as well as specific strategies targeting cataract management, women and the elderly.
Topics: Humans; Blindness; Global Burden of Disease; Female; Male; Aged; Middle Aged; Asia; Disability-Adjusted Life Years; Adult; Aged, 80 and over; Prevalence; Young Adult; Adolescent; Child; Child, Preschool; Infant; Cataract; Vision, Low; Refractive Errors
PubMed: 38867671
DOI: 10.7189/jogh.14.04100 -
European Journal of Medical Research Jun 2024To develop a comprehensive compliance assessment scale for postoperative visual function rehabilitation in children with congenital cataracts and to assess its...
OBJECTIVE
To develop a comprehensive compliance assessment scale for postoperative visual function rehabilitation in children with congenital cataracts and to assess its reliability and validity.
METHOD
Drawing on the Interactive Model of Health Behavior, we conducted a literature review and semi-structured interviews to create a pool of 36 items. The items underwent rigorous evaluation through the Delphi method, face validity checks, and item analysis, leading to a reduction to 18 items. To assess the scale's reliability and validity, we collected data from 225 parents of children with congenital cataracts. We employed SPSS version 25.0 for data analysis and evaluated construct validity using exploratory factor analysis, content validity, internal consistency reliability, and test-retest reliability.
RESULTS
The compliance scale for postoperative visual function rehabilitation in children with congenital cataracts comprises 5 dimensions and 18 items. Exploratory factor analysis extracted 5 common factors, with a cumulative variance contribution rate of 68.178%. Item-level content validity index ranged from 0.730 to 1.000, and the content validity index of the scale was 0.963. The total Cronbach's alpha coefficient, split-half reliability, and test-retest reliability of the scale were 0.855, 0.778, and 0.859, respectively.
CONCLUSIONS
The compliance assessment scale for postoperative visual function rehabilitation in children with congenital cataracts demonstrates acceptable reliability and validity. It serves as a valuable reference for developing standardized nursing programs for these children in clinical practice.
Topics: Humans; Cataract; Female; Male; Child, Preschool; Reproducibility of Results; Child; Cataract Extraction; Patient Compliance; Surveys and Questionnaires; Infant; Postoperative Period; Visual Acuity
PubMed: 38867303
DOI: 10.1186/s40001-024-01922-4 -
Scientific Reports Jun 2024To investigate biomarkers of intra-ocular pressure (IOP) decrease after cataract surgery with trabecular washout in pseudo-exfoliative (PEX) glaucoma. A single-center... (Observational Study)
Observational Study
To investigate biomarkers of intra-ocular pressure (IOP) decrease after cataract surgery with trabecular washout in pseudo-exfoliative (PEX) glaucoma. A single-center observational prospective study in PEX glaucoma patients undergoing cataract surgery with trabecular washout (Goniowash) was performed from 2018 to 2021. Age, gender, visual acuity, IOP, endothelial cell count, central corneal thickness, medications, were collected over 16-month follow-up. Multivariable binomial regression models were implemented. 54 eyes (35 subjects) were included. Mean preoperative IOP (IOP) was 15.9 ± 3.5 mmHg. Postoperative IOP reduction was significant at 1-month and throughout follow-up (p < 0.01, respectively). IOP was a predictive biomarker inversely correlated to IOP decrease throughout follow-up (p < 0.001). At 1 and 12 months of follow-up, IOP decrease concerned 31 (57.4%) and 34 (63.0%) eyes with an average IOP decrease of 17.5% (from 17.6 ± 3.1 to 14.3 ± 2.2 mmHg) and 23.0% (from 17.7 ± 2.8 to 13.5 ± 2.6 mmHg), respectively. Performance (AUC) of IOP was 0.85 and 0.94 (p < 0.0001, respectively), with IOP threshold ≥ 15 mmHg for 82.1% and 96.8% sensitivity, 84.2% and 75.0% specificity, 1.84 and 3.91 IOP decrease odds-ratio, respectively. All PEX glaucoma patients with IOP greater than or equal to the average general population IOP were likely to achieve a significant sustainable postoperative IOP decrease.
Topics: Humans; Intraocular Pressure; Male; Female; Aged; Prospective Studies; Cataract Extraction; Biomarkers; Exfoliation Syndrome; Middle Aged; Glaucoma, Open-Angle; Trabecular Meshwork; Aged, 80 and over; Visual Acuity
PubMed: 38866840
DOI: 10.1038/s41598-024-53893-5 -
Clinical Ophthalmology (Auckland, N.Z.) 2024To evaluate and compare the effect of femtosecond laser-assisted cataract surgery on corneal astigmatism in post-LASIK eyes and virgin eyes.
PURPOSE
To evaluate and compare the effect of femtosecond laser-assisted cataract surgery on corneal astigmatism in post-LASIK eyes and virgin eyes.
PATIENTS AND METHODS
Patients who underwent femtosecond laser-assisted cataract surgery were included in the study and categorized into two groups: Group A, consisting of patients with post-LASIK eyes, and Group B, consisting of patients with virgin eyes. Visual acuity, corneal astigmatism, and surgically induced astigmatism (SIA) were evaluated. Additionally, the correlation between SIA and preoperative corneal astigmatism, mean corneal curvature, and central corneal thickness was also analyzed.
RESULTS
A total of 168 eyes were enrolled in this study, with 62 eyes in Group A and 106 eyes in Group B. Significant differences in corneal astigmatism and SIA were observed between the two groups in the early postoperative period following cataract surgery (P<0.05). However, there was no significant difference at 6 months postoperatively (P>0.05). Corneal astigmatism demonstrated an against-The-rule shift in both groups postoperatively. No significant correlation was identified between SIA and preoperative corneal astigmatism, corneal curvature or corneal thickness. Additionally, there was no significant difference observed between the two groups in terms of uncorrected distance visual acuity (UDVA) at 6 months postoperatively.
CONCLUSION
The effect of femtosecond laser-assisted cataract surgery on corneal astigmatism in post-LASIK eyes and virgin eyes was different in the early postoperative period. However, there was no significant difference at 6 months postoperatively. The post-LASIK eyes exhibited a delayed recovery compared to the virgin eyes.
PubMed: 38863679
DOI: 10.2147/OPTH.S466201 -
Frontiers in Cellular Neuroscience 2024Diabetic retinopathy (DR) is a leading cause of blindness and vision impairment worldwide and represents one of the most common complications among diabetic patients....
Diabetic retinopathy (DR) is a leading cause of blindness and vision impairment worldwide and represents one of the most common complications among diabetic patients. Current treatment modalities for DR, including laser photocoagulation, intravitreal injection of corticosteroid, and anti-vascular endothelial growth factor (VEGF) agents, target primarily vascular lesions. However, these approaches are invasive and have several limitations, such as potential loss of visual function, retinal scars and cataract formation, and increased risk of ocular hypertension, vitreous hemorrhage, retinal detachment, and intraocular inflammation. Recent studies have suggested mitochondrial dysfunction as a pivotal factor leading to both the vascular and neural damage in DR. Given that Coenzyme Q10 (CoQ10) is a proven mitochondrial stabilizer with antioxidative properties, this study investigated the effect of CoQ10 eyedrops [in conjunction with vitamin E d-α-tocopheryl poly(ethylene glycol) 1000 succinate (TPGS)] on DR-induced neurodegeneration using a type 2 diabetes mouse model (C57BLKsJ-db/db mice). Utilizing a comprehensive electroretinography protocol, supported by immunohistochemistry, our results revealed that topical application of CoQ10 eyedrops conjugated with vitamin E TPGS produced a neuroprotective effect against diabetic-induced neurodegeneration by preserving the function and histology of various retinal neural cell types. Compared to the control group, mice treated with CoQ10 exhibited thicker outer and inner nuclear layers, higher densities of photoreceptor, cone cell, and rod-bipolar cell dendritic boutons, and reduced glial reactivity and microglial cell density. Additionally, the CoQ10 treatment significantly alleviated retinal levels of MMP-9 and enhanced mitochondrial function. These findings provide further insight into the role of mitochondrial dysfunction in the development of DR and suggest CoQ10 eyedrops, conjugated with vitamin E TPGS, as a potential complementary therapy for DR-related neuropathy.
PubMed: 38863499
DOI: 10.3389/fncel.2024.1404987 -
Arquivos de Neuro-psiquiatria May 2024
Topics: Humans; Cataract
PubMed: 38857887
DOI: 10.1055/s-0044-1787686