Impact of a 50bp insertion/deletion polymorphism of the superoxide dismutase-1 on oxidative stress status and risk of keratoconus.

Keratoconus (KC) is characterized by the predominant primary ectatic disease, affecting the cornea, necessitating corneal transplants in some cases. While some loci associated with KC risk have been identified, the understanding of the disease remains limited. Superoxide dismutase (SOD) enzymes play a crucial role in countering the reactive oxygen species and providing protection against oxidative stress (OS). Accordingly, the objective of this study was to investigate a potential association of a 50 nucleotide base pairs (bp) insertion/deletion (I/D) within the SOD1 promoter, and the located 1684 bp upstream of the SOD1 ATG, with KC in the Iranian population. Additionally, an assessment was conducted on SOD activity and the total antioxidant capacity (TAC), as determined by the ferric reducing-antioxidant power assay, along with malondialdehyde (MDA) levels. In this case-control study, genomic DNA was extracted from the blood cells of KC (n = 402) and healthy (n = 331) individuals. The genotype of this gene was determined using the PCR technique. Furthermore, the amount of SOD enzyme activity and the MDA and TAC levels were measured in the serum of the study groups. The (I/I) genotype was present in 84.23%, the (I/D) genotype in 15.06%, and the (D/D) genotype in 0.69% of both groups. A statistically significant relationship was seen between different genotypes and TAC, MDA, and SOD1 activity indices (P < 0.05). Individuals with the D/D genotype exhibited a decrease in total antioxidant capacity, an increase in the amount of MDA, and a decrease in SOD1 enzyme activity (P < 0.05). Moreover, the logistic regression analysis of KC development indicated that elevated levels of MDA increased the risk of KC incidence in the patient group compared to the healthy group, while a higher activity of SOD1 and greater values of TAC decreased the KC risk. The removal of the 50 bp fragment reduced SOD1 activity and elevated OS levels, thereby impacting the oxidant-antioxidant balance. This could potentially play a significant role in individuals afflicted by KC.

Genetic variants in the FOXO1 and ZNF469 genes are associated with keratoconus in Sweden: a case-control study.

BACKGROUND: Keratoconus (KC) is characterized by pathological thinning and bulging of the cornea that may lead to visual impairment. The etiology of sporadic KC remains enigmatic despite intensive research in recent decades. The purpose of this study was to examine the relationship between previously highlighted genetic variants associated with KC and sporadic KC in a Swedish cohort. METHODS: A total of 176 patients (age 16-70 years) with sporadic KC diagnosed by Scheimpflug-topography (Pentacam) were included. The control group (n = 418; age 70 years) was a subsample originating from the Gothenburg H70 Birth Cohort Studies of ageing. Extraction of DNA from blood samples was performed according to standard procedures, and genotyping was performed using competitive allele specific PCR (KASP) technology. A total of 11 single nucleotide polymorphisms (SNPs) were selected for analysis. RESULTS: Statistically significant associations (p = 0.005) were found between the SNPs rs2721051 and rs9938149 and sporadic KC. These results replicate earlier research that found associations between genetic variants in the FOXO1 and BANP-ZNF469 genes and sporadic KC in other populations. CONCLUSION: Genetic variations in the FOXO1 and BANP-ZNF469 genes may be involved in the pathogenesis of sporadic KC.

Keratoconus in Down syndrome: Prevalence, risk factors, severity and corneal tomographic characteristics.

BACKGROUND: This study investigated the prevalence, risk factors and severity of corneal tomographic features of keratoconus in Down syndrome (DS). Additionally, previous studies indicate anomalous corneal features in DS, without keratoconus, this study characterised corneal features in DS without keratoconus. METHODS: This prospective observational study included participants with DS ≥10 years old. Keratoconus diagnosis, risk factors and corneal tomographic characteristics were recorded. Participants underwent slit-lamp biomicroscopy, Scheimpflug corneal tomography, corneal topography and autorefraction. A diagnosis of keratoconus (DS-KC), suspect keratoconus (DS-SK) and non-keratoconus (DS-NK) was made based on expert review of scans by three fellowship trained anterior segment ophthalmologists. Corneal tomography parameters from one eye of each participant were analysed. RESULTS: Keratoconus affected 50 (26.3%) of 190 participants, diagnosed by corneal tomography, topography or slit-lamp signs. Corneal hydrops affected 14.0% of DS-KC participants. Eye rubbing was a significant risk factor for keratoconus (p = 0.036). 175 (92%) participants could undertake corneal tomography of which tomography assessment alone identified 47 (26.9%) DS-KC participants, 64 (36.6%) DS-SK participants and 64 (36.6%) DS-NK participants. Significant differences (p < 0.001) were identified when the DS-KC, DS-SK and DS-NK groups were compared in maximum keratometry and posterior elevation at the thinnest point respectively: median (interquartile range) 50.20 (10.30D), 47.60 (1.95D), 46.50 (2.40D); 24.0 (38.00 µm), 10.00 (13.75 µm), 8.00 (6.00 µm). The DS-SK and DS-NK cohorts had similar minimum pachymetry, however, had several significantly different parameters among which included greater maximum keratometry, posterior elevation at the thinnest point in the DS-SK group. CONCLUSIONS: Keratoconus is common in DS. Keratoconus screening with corneal tomography is recommended for early detection.

Prevalence of Keratoconus Among High School Students in Southern Brazil: A Community-Based Study.

OBJECTIVES: This study aimed to determine the prevalence of keratoconus (KC) in teenagers who live in Southern Brazil and detect any possible associated factors. METHODS: This prospective, observational, mobile clinic-based cross-sectional study collected data from students between 14 and 21 years from seven high schools who were living in the Greater Porto Alegre metropolitan region in Southern Brazil. Subjects were clinically surveyed and examined using a slitlamp and rotational Scheimpflug corneal tomography system. All data were collected at the mobile clinic during a single visit. RESULTS: Eight-hundred twenty-six students were evaluated (357 boys and 469 girls) with an average age of 16.7±1.2 years. Six subjects were classified as having KC (four girls), yielding a prevalence rate of 0.73% (95% confidence interval, 0.27%-1.57%) or one per 137 teenagers in Southern Brazil. Logistic regression showed an association between KC and positive history of eye rubbing ( P =0.02). CONCLUSION: According to our investigation, this is the first KC prevalence study in South America using the latest technologies (Scheimpflug imaging). The prevalence of KC among teenagers in Southern Brazil is within the highest reported worldwide. We also found an association between KC and history of eye rubbing. Keratoconus is not an uncommon disorder in our population, and the efforts to identify the disease and reduce its risk factors in an earlier phase are justified.

Prevalence of Keratoconus Based on Scheimpflug Corneal Tomography Metrics in a Pediatric Population From a Chicago-Based School Age Vision Clinic.

PURPOSE: Determine the pediatric prevalence of keratoconus (KC) using Scheimpflug corneal tomography. METHODS: A prospective observational study was done on subjects aged 3 to 18 years at the Princeton Vision Clinic, Chicago, IL. Scheimpflug tomography (Pentacam HR, OCULUS Optikgerate GmbH) scans (Belin/Ambrósio Enhanced Ectasia BAD3) yielded BAD Final D (Final D) and Back Elevation at the Thinnest Point (BETP) measurements. Criteria differentiating non-KC from KC suspects & KC were, Non-KC -Final D <2.00 in both eyes; KC suspect -Final D ≥2.00 and <3.00 in combination with BETP ≥18 µm for myopia and ≥28 µm for hyperopia/mixed astigmatism in at least one eye; and KC -Final D of ≥3.00 with BETP ≥18 µm for myopia or ≥28 µm for hyperopia/mixed astigmatism in at least one eye. Two thousand two hundred and six subjects were recorded, removing duplicate and poor-quality scans leaving 2007 subjects. RESULTS: Of 2007 subjects, six were classified as KC -prevalence of 1:334, three subjects were KC suspects -prevalence of 1:669, and total prevalence of KC suspects and KC was 1:223. CONCLUSION: The prevalence of KC in children is higher than previously reported, emphasizing the importance of sensitive screening for KC at its earliest manifestation as standard in pediatric comprehensive eye examinations.

Pediatric keratoconus epidemiology: a systematic scoping review.

BACKGROUND: Pediatric keratoconus (pediatric KC) causes progressive deformation of the cornea in children and adolescents, leading to a gradual loss of vision and a need for rehabilitation. However, new treatments may halt the disease and prevent worse outcomes that require penetrating keratoplasty and its associated morbidity and high cost, irreversible loss of vision, and amblyopia. Few systematic reviews focus on keratoconus-and even fewer, on pediatric KC. METHODS: Here, we report a systematic scoping review of pediatric KC epidemiology and discuss the studies reporting data on pediatric KC. We used PRISMA-ScR methodology and checklists in the elaboration of the manuscript. The inclusion criteria were: English language; publication between August 7, 1998, and August 7, 2019 (20 years); theme of the study pediatric KC epidemiology. The search strategy: searches of the PubMed-MEDLINE database and Cochrane Database of Systematic Reviews, using eight combinations of the following MeSH terms: keratoconus; child; incidence; prevalence; pediatrics; adolescent; epidemiology. RESULTS: We charted and reviewed the selected articles. Initial searches included 1802 records; after the exclusion of article duplicates, we screened 777 records, read 97 articles in full text, and included 76 articles in this review. CONCLUSIONS: Recent epidemiological studies with better methodologies demonstrated increased prevalence rates in comparison to the older literature. This effect may be due to better diagnostic methods and better sample selection than those in historical studies. Diagnosis remains a major challenge as the early disease is usually asymptomatic. Economic and social aspects of pediatric KC remain understudied in the pediatric literature. Global, inclusive, and proactive screening studies in schools are imperative to better understand the great impact of this disease in the young.

Keratoconus International Consortium (KIC)- advancing keratoconus research.

CLINICAL RELEVANCE: The Keratoconus International Consortium (KIC) will allow better understanding of keratoconus. BACKGROUND: Keratoconus is a disorder characterised by corneal elevation and thinning, leading to reduced vision. The current gaps in understanding of this disease will be discussed and the need for a multi-pronged and multi-centre engagement to enhance our understanding of keratoconus will be highlighted. DESIGN: KIC has been established to address the gaps in our understanding of keratoconus with the aim of collecting baseline as well as longitudinal data on several fields. PARTICIPANTS: Keratoconus and control (no corneal condition) subjects from different sites globally will be recruited in the study. METHODS: KIC collects data using an online, secure database, which enables standardised data collection at member sites. Data fields collected include medical history, clinical features, quality of life and economic burden questionnaires and possible genetic sample collection from patients of different ethnicities across different geographical locations. RESULTS: There are currently 40 Australian and international clinics or hospital departments who have joined the KIC. Baseline data has so far been collected on 1130 keratoconus patients and indicates a median age of 29.70 years with 61% being male. A total of 15.3% report a positive family history of keratoconus and 57.7% self-report a history of frequent eye rubbing. CONCLUSION: The strength of this consortium is its international, collaborative design and use of a common data collection tool. Inclusion and analyses of cross-sectional and longitudinal data will help answer many questions that remain in keratoconus, including factors affecting progression and treatment outcomes.

Prevalence and risk factors of keratoconus (including oxidative stress biomarkers) in a cohort study of Shiraz university of medical science employees in Iran.

BACKGROUND: To determine the prevalence of keratoconus in Shiraz University of Medical Sciences Employees and the related risk factors including oxidative stress biomarkers. METHODS: 2546 subjects' mean age ± SD, 40.35 ± 6.70 (46% male) were recruited. All participants underwent objective refraction using auto-refractometer and retinoscopy, followed by subjective refraction, and bio-microscopy. Pentacam imaging was performed for the detected keratoconus patients. The prevalence of keratoconus and frequency of the visual impairment among keratoconus cases were evaluated. Potential risk factors of sex, age, family history of keratoconus, body mass index ≥ 30 kg/m2, serum levels of glucose ≥ 100 mg/d, low-density-lipoprotein-cholesterol (LDL) ≥ 110 mg/dL, high-density-lipoprotein-cholesterol ≤ 40 mg/d, and triglycerides ≥ 150 mg/dL in the blood were evaluated. RESULTS: The prevalence of keratoconus at least in one eye was 0.98% (95% CI: 0.6- 1.4%). The best corrected visual acuity in the keratoconus group was 0.06 ± 0.1 and the rest of the population was 0.01 ± 0.07 logMAR (p < 0.001). The frequency of visual impairment in the keratoconus group was zero. Odds ratios of the family history of keratoconus (21.00, 95% CI: 9.00-48.00, p < 0.001) and LDL ≥ 110 mg/dL (3.00, 95% CI: 1.20-6.40, p = 0.01) were significant. CONCLUSIONS: Keratoconus is rare and is not considered a risk factor for visual impairment. A family history of keratoconus and elevated serum LDL levels are contributing risk factors, suggesting an inflammatory background for the disease. Serum levels of LDL ≥ 110 mg/dL in the blood increased the risk of keratoconus three folds.

A high body mass index strengthens the association between the time of eye rubbing and keratoconus in a Chinese population: a case control study.

BACKGROUND: Although body mass index (BMI) and eye rubbing are linked to an increased risk of keratoconus (KC), the interactive effect of eye rubbing and BMI on KC is largely unknown. This study aimed to evaluate the independent and interactive effects of BMI and eye rubbing on KC and to further explore the role of environmental factors on the occurrence of KC. METHODS: A total of 621 individuals (291 KC patients and 330 control individuals) were enrolled in this hospital­based study on KC patients in Central China after individuals missing BMI data were excluded. BMI was calculated as weight in kilograms divided by the square of height in meters. Data on eye rubbing was recorded through face-to-face interviews. Generalized linear regression models were used to analyze associations among BMI, eye rubbing and KC. Interaction plots were used to describe the interactive effects of BMI and eye rubbing on KC. RESULTS: The ß and 95% confidence interval (CI) were 0.923 (0.112, 1.733) (p = 0.026) and 3.356 (1.953, 4.759) (p < 0.001), respectively, for the effect of each 10 kg/m2 increase in BMI and each 1 min increase in eye rubbing on KC. The interaction of BMI and eye rubbing were positively correlated with KC (p < 0.001). CONCLUSION: These findings suggested that a high BMI aggravated the negative effect of eye rubbing on KC, implying that individuals with a high BMI may be more susceptible to exposure to eye rubbing, which is related to an increased risk of KC.

The association between keratoconus and allergic eye diseases: A systematic review and meta-analysis.

BACKGROUND: To investigate the association between keratoconus (KC) and allergic eye diseases, eye rubbing, and atopy. METHODS: PubMed, Web of Science, Scopus, and Cochrane databases were searched for studies investigating eye allergy, atopy, and eye rubbing as risk factors for KC up to April 2021. Two authors independently screened all titles and abstracts against the predefined inclusion and exclusion criteria. The study analysed the prevalence of KC and its risk factors, including eye rubbing, family history of KC, atopy, and allergic eye diseases. The National Institutes of Health Study Quality Assessment Tool was used. Pooled data are presented as odds ratios (OR) and 95% confidence intervals (CI). The analysis was conducted using RevMan version 5.4 software. RESULTS: The initial search yielded 573 articles. After screening, 21 studies were identified for qualitative analysis and 15 for quantitative synthesis. A significant association was found between KC and eye rubbing (OR = 5.22, 95% CI [2.80, 9.75], p < 0.00001), family history of KC (OR = 6.67, 95% CI [4.77, 9.33], p < 0.00001), and allergies (OR = 2.21, 95% CI [1.57, 3.13], p < 0.00001). However, no significant association was found between KC and allergic eye disease (OR = 1.82, 95% CI [0.37, 8.97], p = 0.46), atopy (OR = 1.54, 95% CI [0.58, 4.09], p = 0.39), allergic rhinitis (OR = 0.85, 95% CI [0.54, 1.33], p = 0.47), smoking (OR = 0.96, 95% CI [0.76, 1.21], p = 0.73), and asthma (OR = 1.58, 95% CI [0.99, 2.53], p = 0.05). CONCLUSION: Significant associations were observed between KC and eye rubbing, family history, and allergy, but not with allergic eye disease, atopy, asthma, and allergic rhinitis.

Risk Factors for Keratoconus Progression in Children Compared with Young and Middle-aged Adults.

BACKGROUND: To investigate the risk factors for keratoconus progression in children (10 - 18 years old; age group 1) compared to young adults (19 - 35 years old; age group 2) and middle-aged adults (36 - 55 years old; age group 3). PATIENTS/METHODS: Ninety-seven children, 445 young adults, and 342 middle-aged adults underwent total ophthalmic examination including clinical refraction, slit lamp examination, corneal tomography, eye biometry, and biomechanical properties measurements. Comparisons were assessed among three age groups and between progressive and nonprogressive eyes. Logistic regression was applied to determine the potential prognostic factors for keratoconus progression in the three age groups. RESULTS: Univariate logistic regression analysis show that the most prominent factors associated with progression were corneal posterior vertical radius (RVP), eye rubbing (RUB), slit lamp corneal thinning (SLT), contact lens use (CL), and central corneal thickness (CCT) in all age groups. Additionally, the anterior chamber volume (ACV) and keratoconus match index (KMI) were associated with progression in age group 1. Location of the thinnest corneal thickness at the vertical axis (TCTy), distance from apex to the thinnest point (BADISTAPEX), scissor reflection in retinoscopy (SKIAREFLEX), and Vogt striae were associated with progression in age group 2, and TCTy, anterior and posterior asphericity (ASPA and ASPP, respectively), BADISTAPEX, SKIAREFLEX, and Vogt striae were associated with progression in age group 3. The multivariate model with the highest predictability indicated RVP, ACV, and SLT as independent determinants of progression in age group 1 (AUC: 90%, sensitivity: 88.9%, specificity: 90.9%), RVP, ACV, SLT, and SKIAREFLEX in group 2 (AUC: 81.6%, sensitivity 88.5%, specificity: 70.3%), and RVP, SLT, Vogt striae, and CL in age group 3 (AUC: 80%, sensitivity 82.8%, specificity: 73%). CONCLUSION: ACV and KMI seem to play a major role in the progression of pediatric KC compared to adults. This is probably due to different anatomical and biomechanical characteristics of a child's eye globe.

Late-onset distal-apical intracorneal ring-segments keratopathy: an analysis of a large sample in a multicenter study.

PURPOSE: To review the prevalence and describe the characteristics, of cases with late-onset intracorneal ring segments (ICRS) keratopathy in a multicenter study. METHODS: A retrospective multicentric case-series study was performed in a specialized keratoconus service, from Buenos Aires, Argentina. An electronic clinical chart from patients with ICRS keratopathy between January 1999 and January 2019 was reviewed. We included cases with late-onset distal-apical ICRS keratopathy, which was defined as a persistent corneal lesion developed 12 months or later after implantation, located over, around, or closer to the ICRS. All the surgeries were performed by a manual corneal tunnel creation technique. Samples were taken to rule out infectious etiology. RESULTS: From 5217 eyes that underwent ICRS implantation, 13 cases (0.24%) were detected. The keratopathy onset was 72 ± 42.98 months (29-133) after ICRS implantation. Cultures were negative in all cases. An ICRS exchange was made for five cases in stage I and four in stage II. Four cases presented with partial ICRS extrusion in stage III. ICRS exchange was possible in two of them and a penetration keratoplasty was necessary for the rest. All cases remained stable 1 year after surgical procedures. CONCLUSIONS: A late-onset distal-apical ICRS keratopathy was detected with low prevalence (0.24%) in a large sample. It was classified into three stages according to its severity. Different treatments were selected for each stage, obtaining stable results 1 year after treatment.

Evaluating the association between MPDZ-NF1B rs1324183 and keratoconus in an independent northwestern Chinese population.

BACKGROUND: Keratoconus (KC) is a complex, non-inflammatory corneal degenerative disease. Although numerous studies have analyzed the correlation of SNP rs1324183, which located in MPDZ-NF1B gene, and KC in different populations, only few findings were repeated. In this study, to evaluate the association between rs1324183 and KC in a new independent Chinese population, we performed a replication study of the significantly associated rs1324183. METHODS: In total of 114 unrelated KC patients and 88 unrelated controls were recruited from Ningxia, China. We detected the genotypes and alleles of rs1324183 using PCR technology and Sanger sequencing and also analyzed the association between this locus and KC, its clinical parameters by statistical methods. RESULTS: The frequency of genotype AA (11, 9.6%) and genotypes containing allele A (47, 41.2%) of rs1324183 in KC were both higher than those of the control group. And genotype AA of rs1324183 conferred a higher risk of KC (OR > 1). Moreover, corneal parameter Belin/Ambrósio enhanced ectasia display final D value (BAD-D) had significant correlation (p = 0.002) with AA genotype of rs1324183 in KC. CONCLUSIONS: Our replication study indicates that the results of rs1324183 associated with KC in our population is robust and further better illustrates the significance of BAD-D as a diagnostic indicator for KC. rs1324183 should be considered as the first genetic mark of KC risk in its future diagnosis.

Prevalence of Corneal Topographic Patterns in Ectatic Corneal Diseases.

SIGNIFICANCE: The article highlights various topographic patterns and their prevalence in a large spectrum of ectatic corneal diseases (ECDs). Knowledge of these patterns can help clinicians for quicker diagnosis and selection of appropriate contact lens design. PURPOSE: This study aimed to determine various corneal topography patterns and their prevalence in patients with ECDs who visited a tertiary eye hospital in western India. METHODS: Keratoconus, pellucid marginal degeneration, keratoglobus, and post-refractive surgery progressive corneal ectasia are considered under ECDs. This cross-sectional retrospective study reviewed records of 632 consecutive patients with clinical ECDs at their first presentation. The right eye was considered for pattern analysis. In cases with suspected or forme fruste ectasia in the right eye, the fellow eye was considered. A sagittal map with standard scale of Atlas 9000 topographer (Carl Zeiss Meditec AG, Jena, Germany) was used for pattern analysis. They were classified into 18 categories and grouped under five groups. The prevalence of these patterns was calculated and assessed with 95% confidence interval (CI). RESULTS: The mean ± SD age of patients was 23.6 ± 8.2 years. The highest prevalence was of asymmetric patterns (39.6% [95% CI, 35.7 to 43.5%]; asymmetric bowtie [AB] with steepest radial axis index [SRAX], 18.8%; AB with inferior steep, 16.0%; AB with superior steep [SS], 3.2%; symmetric bowtie with SRAX, 1.6%) and of central or paracentral patterns (28.6% [95% CI, 25.1 to 32.3%]; inferior steep, 12.2%; heart, 7.4%; oval, 4.1%; symmetric bowtie, 2.4%; round, 1.6%; irregular, 0.9%) followed by advanced patterns (17.3% [95% CI, 14.4 to 20.4%; nonmeasurable, 5.4%; globus, 4.9%; indiscriminate, 7.0%). The peripheral patterns were 11.7% (95% CI, 9.3 to 14.4%) (claw, 6.3%; junctional, 3.2%; butterfly, 1.9%; SS, 0.3%). Rare patterns were 2.8% (95% CI, 1.7 to 4.5%) (superior [junctional, claw, and heart], AB with SS with SRAX, and AB with SRAX located temporally). CONCLUSIONS: Asymmetric and central or paracentral are the most common patterns in our study. The higher prevalence of advanced patterns indicates the need for earlier diagnosis of ECDs in our population. The peripheral patterns also have significant prevalence.

The association between keratoconus and allergic eye diseases: A systematic review and meta-analysis.

BACKGROUND: To investigate association between keratoconus and allergic eye diseases, eye rubbing, and atopy. METHODS: PubMed, Web of Science, Scopus, and Cochrane were searched for relevant published studies from inception to April 2021 without restrictions or filters. We included case-control, cohort, and cross-sectional studies that investigated eye allergy, atopy, or eye rubbing as possible risk factors for KC. Two authors independently screened all titles and abstracts against predefined inclusion and exclusion criteria. This study analysed keratoconus prevalence and risk factors including eye rubbing, family history of keratoconus, atopy, and allergic eye diseases. The National Institute of Health Study Quality Assessment tool was utilised. Pooled data were presented as odds ratio (OR) and 95% confidence intervals (CI). Analysis was conducted using RevMan version 5.3 software. RESULTS: Out of 573 articles, we excluded 161 duplicates than 361 articles by title and abstract screening. The remaining 51 articles underwent full-text screening, and 29 articles were excluded. Twenty-one studies were included in the qualitative synthesis and fifteen for quantitative synthesis. There was no significant association found between KC and allergic eye diseases (OR = 1.03, 95% CI [0.96, 1.11], p = 0.45), eye rubbing (OR = 1.59, 95% CI [0.70, 3.63], p = 0.27), or atopy (OR = 1.08, 95% CI [0.80, 1.44], p = 0.62). CONCLUSION: No significant association was observed between KC and allergic eye disease, eye rubbing, or atopy. Further prospective studies are needed to clarify and validate these findings.

Quality of life impact of eye diseases: a Save Sight Registries study.

BACKGROUND: The objectives of this study were to evaluate the quality-of-life (QoL) impact of eye diseases (keratoconus; neovascular age-related macular degeneration, AMD; retinal vein occlusion, RVO; and diabetic macular edema, DME) using the Impact of Vision Impairment (IVI) questionnaire, and to determine the relationship between the IVI scores and visual acuity. METHODS: This cross-sectional, multicentre, real-world study utilised the prospective, web-based Save Sight Registries. The IVI was completed by 1557 patients: 307 with keratoconus, 1049 with AMD, 148 with RVO and 53 with DME. Statistical analysis included Rasch analysis, Welch t-test, one-way ANOVA, Tukey's test, Pearson correlation, and multiple regression. RESULTS: The IVI scales (Overall; Visual Function, VF; Emotional, EM) had robust psychometric properties. The keratoconus patients had the worst Overall (adjusted mean: 48.2 vs. DME 58.8, RVO 64.6, AMD 67.6 units), VF (47.7 vs. DME 59.4, RVO 65.9, AMD 68.9 units) and EM (50.8 vs. DME 63.1, RVO 69.2, AMD 71.8 units) scores (all p < 0.05). The IVI scales scores weakly correlated with better and worse eye visual acuity (Pearson's r 0.24-0.39, all p < 0.05). The correlations were similar in the better eye (Overall 0.35, VF 0.39, EM 0.24) and the worse eye (Overall 0.31, VF 0.33, EM 0.25) visual acuity. Correlations with visual acuity were stronger for VF than for the EM scores. CONCLUSIONS: The IVI was a psychometrically robust QoL questionnaire. Keratoconus patients had worse IVI scores than patients with retinal diseases. The low strength of correlations between visual acuity and QoL scores, although statistically significant, suggested that a complex relationship exists.

Evaluation of a Telemedicine Model for Following Keratoconus Patients in the Era of COVID-19 Pandemic.

Purpose: To evaluate the diagnostic accuracy and reliability of a telemedicine approach for detecting keratoconus patients' progression in the era of coronavirus disease 2019 (COVID-19) pandemic. Materials and Methods: A retrospective study, comparing the office and telemedicine evaluations in determining whether keratoconus patients were at risk of progression and indicated for further treatment of corneal crosslinking, was conducted. The clinic examination included best spectacle corrected visual acuity measurement and manifest refraction, full ophthalmic examination, and corneal topography, which provided with the gold-standard diagnosis. The remote assessment included two decisions of keratoconus progression or stability: the first evaluation after revealing patient demographics and topography images, and the second with the manifest refraction and clinical findings as documented in the outpatient clinic visit. Results: Two-hundred and four eyes of 102 keratoconus patients were included. There was an agreement of assessment between the in-person and the remote diagnostic decisions in 192 (94%) of the eyes. Among the remaining 12 eyes, a false-positive diagnosis was made in 8 (3.9%) eyes, whereas a false-negative diagnosis was made in 4 (1.9%) eyes. The remote assessment showed a sensitivity and specificity of 69% and 96%, respectively. In no case was remote diagnostic decision 2 different from remote decision 1. Conclusions: The telemedicine model yielded high specificity, but low sensitivity values, therefore, not suitable as an alternative for keratoconus patient follow-up (Clinical trial number TLV-0363-20).

The Underlying Relationship between Keratoconus and Down Syndrome.

Keratoconus (KC) is one of the most significant corneal disorders worldwide, characterized by the progressive thinning and cone-shaped protrusion of the cornea, which can lead to severe visual impairment. The prevalence of KC varies greatly by ethnic groups and geographic regions and has been observed to be higher in recent years. Although studies reveal a possible link between KC and genetics, hormonal disturbances, environmental factors, and specific comorbidities such as Down Syndrome (DS), the exact cause of KC remains unknown. The incidence of KC ranges from 0% to 71% in DS patients, implying that as the worldwide population of DS patients grows, the number of KC patients may continue to rise significantly. As a result, this review aims to shed more light on the underlying relationship between KC and DS by examining the genetics relating to the cornea, central corneal thickness (CCT), and mechanical forces on the cornea, such as vigorous eye rubbing. Furthermore, this review discusses KC diagnostic and treatment strategies that may help detect KC in DS patients, as well as the available DS mouse models that could be used in modeling KC in DS patients. In summary, this review will provide improved clinical knowledge of KC in DS patients and promote additional KC-related research in these patients to enhance their eyesight and provide suitable treatment targets.

[Detection of Subclinical Keratoconus]. / Detektion des subklinischen Keratokonus.

The early stage of a keratoconus (KC), without classic and characteristic clinical findings, is a contraindication for refractive surgery. This article therefore shows, in accordance with the current state of the art, ways of identifying risk factors for subclinical keratoconus.After delimitation, this publication contains a current summary of epidemiology, etiology and pathophysiology of subclinical and clinical KC. Furthermore, an overview of different grading scales is given. A detailed description of several practical possibilities for detection of subclinical KC is the focus of this publication: typical abnormalities with subclinical KC in ocular aberrometry, corneal topography, Zernike analysis, Fourier analysis, indices of the corneal anterior surface; especially tomography of the anterior segment of the eye respecting addition of the corneal posterior surface and the pachymetry, and also innovative techniques counting in the rigidity or biomechanical properties, as well as traditional techniques giving hints for subclinical KC as retinoscopy, ophthalmoscopy and subjective refraction.In preparation for refractive surgical interventions and to avoid possible consequences of subclinical KC, a suitable analysis with different methods should always be carried out in addition to a specific anamnesis. An exclusive consideration of the available indices is not sufficient, as this does not reveal early stages. Ideally, the biomechanics of the cornea is included in the diagnosis. The combination of tomography and biomechanics with methods of artificial intelligence are trendsetting in detection of subclinical KC.

Prevalence of keratoconus in refractive surgery practice population in North Macedonia.

PURPOSE: To determine the prevalence of keratoconus (KC) in relation to ethnicity in a group of people who consulted an ophthalmological care institution seeking for refractive surgery in N. Macedonia. METHODS: This was a cross-sectional, interventional retrospective study. Chart reviews were performed for all new patients attending between January 2016 and January 2020 at the Sistina Ophthalmology Hospital in Skopje. All patients were screened; KC diagnosis and classification were based on the corneal topography. Ethnicity and gender classifications were according to patients' self-opinions. RESULTS: A total of 2812 patients charts reviewed. The mean age was 31.71 years (SD ± 9.73), and 1209 (43%) were male. A total of 2050 (72.9%) declared themselves as Macedonians, 649 (23.1%) Albanians, 76 (2.7%) Turks and 37 (1.3%) in other ethnicities. Differences in age between the ethnic groups were statistically significant (x2 = 90.225, p < 0.001). KC was diagnosed in 343 patients (12.2%), while 9 (0.7%) were KC suspects and 6(0.21%) presented pellucid marginal degeneration. KC was more frequent in males (n = 246, 71.7% of total) and skewed toward younger patients. Increasing patients' age decreased the odds of KC diagnosis by 3.7% (95% CI 1.8%-4.4%) per annum. Males were four times more likely to be diagnosed with KC (AOR = 4.01; 95% CI 3.12-5.16). In comparison with Macedonian patients, Turks were more likely to be diagnosed with KC (AOR = 4.09; 95% CI 2.47-6.78). There was no difference between Macedonians and Albanians (p = 0.08). CONCLUSION: The prevalence of KC at a refractive surgery practice in N. Macedonia is much higher compared with general population (6.8/100,000) and similar to the prevalence in Middle East Asia. Nationwide screening programs are needed to diagnose the disease earlier.