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PURPOSE: To compare the outcomes of anterior chamber intraocular lens (AC-IOL) implantation versus the four-flanged scleral fixation technique in eyes with loss of capsular support during routine cataract surgery. METHODS: This was a retrospective cohort study of all patients in whom an IOL was implanted either during or after short-term aphakia due to loss of capsular and sulcus support in a routine cataract surgery with at least 6 months of follow-up time between 2015 and 2023 in a tertiary medical center in Israel. Two different IOL implantation techniques were compared: the implantation of an angle-supported ACIOL and four-flanged scleral fixation. Main outcome measures included postoperative complications such as pseudophakic bullous keratopathy, loss of intraocular pressure control and glaucoma, IOL subluxation, and retinal detachment. RESULTS: Sixty-five eyes of 65 patients were included in the study, 33 eyes in the AC-IOL group and 32 eyes in the flange group. Follow-up time was 29.92 ± 20.02 months in the AC-IOL group and 20.17 ± 15.56 months in the flange group (P = .087). Pseudophakic bullous keratopathy was observed in 10 (30.3%) patients in the AC-IOL group and in 1 (3.1%) patient in the flange group (P = .04). This association remained significant using survival analysis (P = .006). In 4 (12.1%) patients in the AC-IOL group, a glaucoma filtering procedure was performed to control the intraocular pressure compared with none in the flange group (P = .042). CONCLUSIONS: In the setting of loss of capsular support during routine cataract surgery, four-flanged scleral fixation showed an overall lower rate of complications and significantly reduced rate of subsequent surgical interventions. [J Refract Surg. 2024;40(8):e520-e526.].
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Cámara Anterior , Implantación de Lentes Intraoculares , Esclerótica , Agudeza Visual , Humanos , Implantación de Lentes Intraoculares/métodos , Estudios Retrospectivos , Esclerótica/cirugía , Femenino , Masculino , Anciano , Agudeza Visual/fisiología , Persona de Mediana Edad , Cámara Anterior/cirugía , Complicaciones Posoperatorias , Técnicas de Sutura , Estudios de Seguimiento , Presión Intraocular/fisiología , Lentes Intraoculares , Extracción de Catarata/métodos , Facoemulsificación/métodos , Anciano de 80 o más Años , Cápsula del Cristalino/cirugía , Seudofaquia/fisiopatologíaRESUMEN
BACKGROUND: The purpose of this study was to investigate the visual and refractive outcomes in patients with pseudoexfoliation (PXF) undergoing routine cataract surgery and to compare the accuracy of intraocular lens (IOL) power calculation formulae. METHODS: Retrospective case-series study from Shamir medical center, a public hospital, Israel. Medical records of patients who underwent routine cataract surgery between January 2019 and August 2021 were investigated. Postoperative visual acuity and manifest refraction were examined. The error in predicted refraction and IOL power calculation accuracy within a range of ± 0.50 to ± 1.00 diopters were compared between different IOL calculating formulae. RESULTS: 151 eyes of 151 patients ages 73.9 ± 7.1 years were included in this study- 58 eyes in the PXF group and 93 eyes in the control group. The mean absolute error (MAE) for the BUII formula was 0.63D ± 0.87 for the PXF group and 0.36D ± 0.48 for the control group (p < 0.05). The MAE for the Hill-RBF 3.0 formula was 0.61D ± 0.84 for the PXF group and 0.42D ± 0.55 for the control group (p = 0.05). There were significant differences in MAE and MedAE between PXF group and control group measures (p < 0.05). In the PXF group there were no significant differences between the different formulae. CONCLUSIONS: There were significant differences in accuracy of IOL power calculations in all formulae between PXF group and control group measures. PXF patients show hyperopic shift from predicted refraction. Barret universal II formula had the highest proportion of eyes with absolute error in prediction below or equal to 0.50 D in both PXF and control groups.
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Síndrome de Exfoliación , Lentes Intraoculares , Refracción Ocular , Agudeza Visual , Humanos , Síndrome de Exfoliación/fisiopatología , Síndrome de Exfoliación/diagnóstico , Estudios Retrospectivos , Anciano , Femenino , Masculino , Agudeza Visual/fisiología , Refracción Ocular/fisiología , Biometría/métodos , Anciano de 80 o más Años , Óptica y Fotónica , Reproducibilidad de los ResultadosRESUMEN
Importance: Data regarding the prevalence of various inherited retinal diseases (IRDs) are limited and vary across populations; moreover, nationwide prevalence studies may be limited to a specific IRD phenotype, potentially leading to inaccurate prevalence estimations. Therefore, nationwide prevalence data are needed. Objective: To determine the prevalence of 67 IRD phenotypes in the Israeli population. Design, Setting, and Participants: This cohort study collected nationwide data regarding the number of individuals affected with IRD phenotypes assessed in 10 clinical and academic centers in Israel as part of the research activity of the Israeli inherited retinal disease consortium. Data were collected in May 2023 on 9396 individuals residing in Israel who were diagnosed by an ophthalmologist with an IRD using either electroretinography or retinal imaging where included. Individuals with retinal diseases known to have a nonmendelian basis or without a clear genetic basis and those who were reported as deceased at the time of data collection were excluded from this study. Main Outcomes and Measures: Prevalence of 67 IRD phenotypes. Results: Among the 9396 participants in our cohort, the most common IRD in Israel was retinitis pigmentosa with a disease prevalence of approximately 1:2400 individuals, followed by cone-rod dystrophy (approximately 1:14â¯000), Stargardt disease (approximately 1:16â¯000), Usher syndrome (approximately 1:16,000), and congenital stationary night blindness (approximately 1:18â¯000). The prevalence of all IRDs combined was 1:1043 individuals. Conclusions and Relevance: The current study provides large prevalence dataset of 67 IRD phenotypes, some of which are extremely rare, with only a single identified case. This analysis highlights the potential importance of performing additional nationwide prevalence studies to potentially assist with determining the prevalence of IRDs worldwide.
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Electrorretinografía , Enfermedades de la Retina , Humanos , Israel/epidemiología , Prevalencia , Masculino , Femenino , Adulto , Enfermedades de la Retina/epidemiología , Enfermedades de la Retina/genética , Enfermedades de la Retina/diagnóstico , Persona de Mediana Edad , Fenotipo , Adolescente , Adulto Joven , Anciano , Niño , Enfermedades Hereditarias del Ojo/epidemiología , Enfermedades Hereditarias del Ojo/genética , PreescolarRESUMEN
PURPOSE: To measure and compare the inter-examiner reproducibility of manifest refraction in patients with keratoconus. DESIGN: Prospective, inter-examiner reliability analysis comparing cases and controls. METHODS: Patients with keratoconus (KC) and healthy subjects had undergone manifest refraction by the same 2 skilled optometrists; each was masked to the refraction of the other, on the same day. The KC group comprised patients with KC, who were recruited from the cornea clinic. The control group consisted of healthy individuals who wore spectacles and did not have KC. Participants for the control group were recruited from the clinic's staff, including doctors, technicians, nurses, and medical students. The study took place in 1 tertiary medical center in Israel from April 2021 to May 2022. The results of the manifest refraction and achieved corrected distance visual acuity (CDVA) were compared between groups. RESULTS: A total of 120 eyes of 60 patients were enrolled in the study, 30 in the keratoconus group and 30 in the control group. A difference of 0.67 ± 0.83 diopters (D) and 0.19 ± 0.21 D in the absolute manifest cylinder was observed between the optometrists in the keratoconus (95% LoA, -0.96, 2.30) and control group (95% LoA, -0.22, 0.61), respectively (P < .001). Multivariate analysis revealed a 22-fold higher likelihood of an error exceeding 0.75 D in cylinder measurements (odds ratio = 22.24; 95% CI = 2.39-206.95) and a 10-fold likelihood of a difference of at least 1 row on the Snellen chart for corrected distance visual acuity (odds ratio = 10.32; 95% CI = 2.39-44.44) in the KC group. CONCLUSIONS: When compared to healthy subjects, patients with KC exhibited greater variability in manifest refraction. This discrepancy has the potential to influence the decision-making process when managing patients with KC.
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This retrospective study evaluates the effectiveness of combining 0.05% atropine with MF60 contact lenses in managing rapid myopia progression in children over one year. The study involved three groups: the treatment group (TG) with 15 children (53% male, average age 12.9 ± 1.04), the MF group (MF) with 12 children (50% male, average age 12.8 ± 0.8) using only MF60 lenses, and the control group (CG) with 14 children (43% male, average age 12.1 ± 0.76). Baseline myopia and axial length (AL) were similar across groups, with the TG, MF, and CG showing -4.02 ± 0.70 D, -4.18 ± 0.89 D, -3.86 ± 0.99 D, and 24.72 ± 0.73 mm, 24.98 ± 0.70 mm, 24.59 ± 1.02 mm, respectively. Prior to the study, all groups exhibited significant myopia and AL progression, with no previous myopia control management. The treatment involved daily 0.05% atropine instillation, the use of MF60 lenses and increased outdoor activity. Biannual cycloplegic refraction and slit lamp evaluations confirmed no adverse reactions. After one year, the TG showed a significant reduction in myopia and AL progression (-0.43 ± 0.46 D, p < 0.01; 0.22 ± 0.23 mm, p < 0.01), whereas the CG showed minimal change (-1.30 ± 0.43 D, p = 0.36; 0.65 ± 0.35 mm, p = 0.533). The MF group also exhibited a notable decrease (-0.74 ± 0.45 D, p < 0.01; 0.36 ± 0.23 mm). Increased outdoor activity during the treatment year did not significantly impact myopia control, suggesting its limited additional effect in this cohort. The study concludes that the combination of 0.05% atropine and peripheral defocus soft contact lenses effectively controls myopia progression in children.
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Purpose: To review all reported disease-causing mutations in BEST1, perform genotype-phenotype correlation, and estimate disease prevalence in the Israeli population. Methods: Medical records of patients diagnosed with Best disease and allied diseases from nine Israeli medical centers over the past 20 years were collected, as were clinical data including ocular findings, electrophysiology results, and retina imaging. Mutation detection involved mainly whole exome sequencing and candidate gene analysis. Demographic data were obtained from the Israeli Bureau of Statistics (January 2023). A bibliometric study was also conducted to gather mutation data from online sources. Results: A total of 134 patients were clinically diagnosed with Best disease and related conditions. The estimated prevalence of Best disease was calculated to be 1 in 127,000, with higher rates among Arab Muslims (1 in 76,000) than Jews (1 in 145,000). Genetic causes were identified in 76 individuals (57%), primarily showing autosomal-dominant inheritance due to BEST1 mutations (58 patients). Critical conserved domains were identified consisting of a high percentage of dominant missense mutations, primarily in transmembrane domains and the intracellular region (Ca2+ binding domain) of the BEST1 protein. Conclusions: This study represents the largest cohort of patients with Best disease reported in Israel and globally. The prevalence in Israel is akin to that in Denmark but is lower than that in the United States. Critical conserved domains within the BEST1 protein are pivotal for normal functioning, and even minor missense alterations in these areas lead to a dominant disease manifestation. Genetic testing is indispensable as the gold standard for Best disease diagnosis due to the variable clinical presentation of the disease.
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Distrofia Macular Viteliforme , Humanos , Israel/epidemiología , Prevalencia , Mutación , Estudios de Asociación Genética , BestrofinasRESUMEN
PURPOSE: The aim of the study was to evaluate the efficacy and safety of quantum molecular resonance in the treatment of dry eye disease. METHODS: This study was a double-blind randomized control trial in 1 academic medical center, for 2 years. Participants received treatment or a placebo with the Rexon-Eye device, once per week for 4 weeks. The primary outcome was the change in dry eye symptoms assessed by the Ocular Surface Disease Index (OSDI). Secondary outcomes were clinical findings associated with the dry eye such as meibomian gland dysfunction (MGD) score, tear break-up time (TBUT), corneal fluorescein staining, Schirmer test, and best-corrected visual acuity (BCVA). RESULTS: Forty patients were recruited, 20 in each arm. The mean age was 63.5 ± 15.1 years and 27 (67.5%) were female. The mean OSDI score significantly improved in the intervention group from 19.15 ± 10.3 to 10.5 ± 7.0 ( P < 0.001), whereas the control group showed no significant change (14.4 ± 8.4 to 15.5 ± 8.6, P = 0.830). MGD scores significantly improved in the intervention group (1.57 ± 1.2 to 0.8 ± 0.9, P = 0.006), whereas showing no significant change in the control group (1.60 ± 0.9 to 1.99 ± 1.0, P = 0.244). The corneal staining score also showed significant improvement in the intervention group ( P = 0.045) and a nonsignificant decline in the placebo group ( P = 0.50). No significant difference was seen in TBUT, visual acuity, and Schirmer scores between groups. No harm resulting from treatment was reported during the duration of the trial. CONCLUSIONS: High-frequency electrotherapy may have a positive effect on symptoms and signs of dry eye. This emerging technology may become part of the arsenal of therapeutic modalities for this condition.
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Síndromes de Ojo Seco , Lágrimas , Agudeza Visual , Humanos , Femenino , Masculino , Persona de Mediana Edad , Síndromes de Ojo Seco/fisiopatología , Síndromes de Ojo Seco/diagnóstico , Síndromes de Ojo Seco/tratamiento farmacológico , Método Doble Ciego , Lágrimas/fisiología , Lágrimas/metabolismo , Lágrimas/química , Agudeza Visual/fisiología , Anciano , Resultado del Tratamiento , Adulto , Soluciones Oftálmicas , Disfunción de la Glándula de Meibomio/terapia , Disfunción de la Glándula de Meibomio/fisiopatología , Disfunción de la Glándula de Meibomio/diagnósticoRESUMEN
OBJECTIVE: It is accepted that ocular parameters are more correlated with the fellow eye. This poses a challenge in ophthalmic research. There is a relative scarcity of data concerning the extent of correlation. The aim of this study was to analyze and quantify the correlation of different ocular parameters. DESIGN: Historical registry analysis. PARTICIPANTS: All patients examined in a 10-year period (2011-2021) in one academic tertiary medical centre in central Israel. METHODS: Data from optical coherence tomography examinations and biometry of a single examination of both eyes taken at the same time from each patient was included. Pearson's r values were calculated to estimate the extent of correlation. RESULTS: A total of 17,212 patients were included. Mean age was 73 ± 12.7 years, and 54.5% were female. All examined parameters were highly statistically significantly correlated between eyes (all with p < 0.1â¯×â¯10-36), whereas the strength of correlation differed. Very weak correlation was seen in central macular thickness (râ¯=â¯0.189), and a weak correlation was seen in anterior-chamber depth (râ¯=â¯0.379) and retinal nerve fibre layer thickness (râ¯=â¯0.479). A strong correlation was seen in central corneal thickness (râ¯=â¯0.754), and a very strong correlation was seen in axial length (râ¯=â¯0.900). CONCLUSIONS: In a retrospective analysis of optical coherence tomography and biometry measurements of >10,000 patients, all examined parameters were highly statistically significantly correlated. Correlation magnitude varied, with structural characteristics more correlated than functional ones. Including both eyes in an outcome analysis likely will introduce bias. We recommend adjusting for inter-eye correlation in all studies assessing ocular outcome measures.
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PURPOSE: The purpose of this study is to assess the diagnostic accuracy of ChatGPT in the field of ophthalmology. METHODS: This is a retrospective cohort study conducted in one academic tertiary medical center. We reviewed data of patients admitted to the ophthalmology department from 06/2022 to 01/2023. We then created two clinical cases for each patient. The first case is according to the medical history alone (Hx). The second case includes an addition of the clinical examination (Hx and Ex). For each case, we asked for the three most likely diagnoses from ChatGPT, residents, and attendings. Then, we compared the accuracy rates (at least one correct diagnosis) of all groups. Additionally, we evaluated the total duration for completing the assignment between the groups. RESULTS: ChatGPT, residents, and attendings evaluated 126 cases from 63 patients (history only or history and exam findings for each patient). ChatGPT achieved a significantly lower accurate diagnosis rate (54%) in the Hx, as compared to the residents (75%; p < 0.01) and attendings (71%; p < 0.01). After adding the clinical examination findings, the diagnosis rate of ChatGPT was 68%, whereas for the residents and the attendings, it increased to 94% (p < 0.01) and 86% (p < 0.01), respectively. ChatGPT was 4 to 5 times faster than the attendings and residents. CONCLUSIONS AND RELEVANCE: ChatGPT showed low diagnostic rates in ophthalmology cases compared to residents and attendings based on patient history alone or with additional clinical examination findings. However, ChatGPT completed the task faster than the physicians.
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Oftalmopatías , Oftalmología , Humanos , Estudios Retrospectivos , Masculino , Femenino , Persona de Mediana Edad , Oftalmopatías/diagnóstico , Competencia Clínica , Reproducibilidad de los Resultados , Anciano , Internado y Residencia , Técnicas de Diagnóstico Oftalmológico , AdultoRESUMEN
PURPOSE: To evaluate the risk of a retinal redetachment in women after vaginal delivery versus cesarean delivery. METHODS: Retrospective cohort analysis of patients diagnosed with retinal detachment (RD) who had later delivered in one tertiary medical center. Recurrence rates of RD were obtained from medical charts. RESULTS: A total of 967 women with RDs were evaluated, and 66 patients met the inclusion criteria. The mean age at the time of RD was 22.64 ± 5.81 SD years and 21.75 ± 5.47 SD years in the vaginal delivery group and the cesarean section group, respectively. None of the patients had a history of eye surgery or traumatic eye injury before the event of RD. In all patients, the detached retina was surgically reattached. Retinal detachment was not recorded in the fellow eye during follow-up. We report four cases of redetachment after birth in four women. In our study, there was a 5% rate (n = 2) of RD after a vaginal delivery as compared with a 7.5% (n = 2) redetachment rate for patients after a cesarean delivery ( P = 0.654). CONCLUSION: The risk of a redetachment of the retina in women is not increased after a vaginal delivery as compared with a cesarean delivery. Therefore, in our opinion, there is no ophthalmic benefit in a cesarean section for a woman with prior RD.
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Cesárea , Desprendimiento de Retina , Humanos , Femenino , Embarazo , Cesárea/efectos adversos , Estudios Retrospectivos , Desprendimiento de Retina/diagnóstico , Desprendimiento de Retina/epidemiología , Desprendimiento de Retina/etiología , Parto Obstétrico/efectos adversos , Estudios de CohortesRESUMEN
PURPOSE: To investigate the influence of post-operative eye patching on corneal thickness, endothelial cells' loss and visual acuity in patients diagnosed Fuchs' endothelial corneal dystrophy (FECD). SETTING: Public healthcare centre, Shamir Medical Centre, Israel. METHODS: This randomized controlled trial included patients with FECD undergoing routine cataract surgery in a public medical centre. Patients were randomly assigned to 2 groups: the eye undergoing surgery was covered with a patch for 24â h in the first group (patched group), and a plastic shield was used in the second (non-patched group). Both groups received a unique dose of a local steroid and antibiotic post-operatively. The eyes were examined pre-operatively, and on days 1, 7 and 30 post-surgery . Examination included: best corrected visual acuity (BCVA), comeplete slit lamp examination, intra ocular pressure (IOP), anterior chamber depth (ACD), central corneal thickness (CCT) using the IOL Master 700 (Zeiss, Germany) and endothelial cell density (ECD) using Specular microscopy. Cumulative dissipated energy (CDE) and operation time were recorded for all cases. RESULTS: The study included 46 eyes of 46 patients diagnosed with FECD. Twenty-three eyes in the patched group, and 23 eyes in the non-patched group . Thirty days post-operatively the CCT in the patched group decreased by 60 ± 38â mµ (9%) compared to 92 ± 80â mµ (13.5%) in the non- patched group (p = 0.04). Seven days post-operatively the CCT in the patched group decreased by 31 ± 35â mµ (5%) compared to 58 ± 76 (8%) in the non-patched group, but this difference did not reach statistical significance (p = 0.081). There was no statistically significant difference in endothelial cells loss as well as BCVA at 1, 7 and 30 days post-operatively between the study groups. CONCLUSIONS: Avoiding eye patch post-operatively after cataract surgery in patients with FECD results in better corneal clarity recovery and reduced corneal edema one month post-operatively. Visual acuity and endothelial cell's loss were not influenced by patching.
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Catarata , Queratoplastia Endotelial de la Lámina Limitante Posterior , Distrofia Endotelial de Fuchs , Humanos , Células Endoteliales , Distrofia Endotelial de Fuchs/cirugía , Distrofia Endotelial de Fuchs/diagnóstico , Córnea , Queratoplastia Endotelial de la Lámina Limitante Posterior/métodos , Implantación de Lentes Intraoculares , Endotelio CornealRESUMEN
PURPOSE: To ascertain the effectiveness of 0.01% atropine treatment to inhibit myopia progression and the possible additive potency with peripheral defocus contact lenses over 3 years and the rebound effect 1 year after cessation of treatment. METHODS: This prospective study included 127 children aged 8 to 5 years, divided into three treatment groups: 0.01% atropine and single-vision spectacles (At+SV, n = 36), 0.01% atropine and peripheral defocus contact lens (At+PDCL, n = 30), and 0.01% atropine and dual-focus contact lens (At+DF, n = 25). A control group was prescribed single-vision spectacles (n = 36). Cycloplegic spherical equivalence refraction was measured every 6 months during 3 years of treatment and 1 year after cessation. RESULTS: Myopia progression decreased over 3 years of treatment, more during the second and third years than the first year, to a statistically significant degree in the atropine groups (P < .01): in the first, second, and third years, respectively, -0.42 ± 0.34, -0.19 ± 0.18, -0.22 ± 0.19 diopters (D) in the At+SV group, -0.26 ± 0.21, -0.14 ± 0.37, and -0.15 ± 0.31 D in the At+PDCL group, and -0.22 ± 0.15, -0.15 ± 0.22, and -0.11 ± 0.14 D in the At+DF group. Myopia progressed 1 year after cessation of treatment: -0.29 ± 0.28 D in the At+SV group, -0.13 ± 0.28 D in the At+PDCL group, and -0.09 ± 0.18 D in the At+DF group. After 3 years, there was no statistically significant difference in myopia progression between the At+SV and At+PDCL or At+DF groups (P < .05). CONCLUSIONS: Low-dose atropine has been substantiated in this cohort as an effective treatment to decelerate myopia progression over 3 years, more effective in the second and third years of treatment. The combination treatment did not exhibit a statistically significant advantage over monotherapy in this cohort. The At+DF group exhibited a statistically lower rebound effect than the At+SV group. [J Pediatr Ophthalmol Strabismus. 2024;61(3):204-210.].
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Atropina , Progresión de la Enfermedad , Anteojos , Midriáticos , Refracción Ocular , Humanos , Atropina/administración & dosificación , Estudios Prospectivos , Niño , Masculino , Refracción Ocular/fisiología , Femenino , Midriáticos/administración & dosificación , Estudios de Seguimiento , Miopía/fisiopatología , Miopía/terapia , Soluciones Oftálmicas , Preescolar , Resultado del Tratamiento , Lentes de ContactoRESUMEN
Importance: Evaluating risk factors for keratoconus, often associated with recurrent eye rubbing, could generate hypotheses to be tested in future interventional trials. Objective: To assess the risk for keratoconus associated with psychiatric comorbidities in adolescents and adults. Design, Setting, and Participants: This population-based cross-sectional study included medical records of Israeli adolescents and adults in military service from January 2011 through December 2021. Main Outcomes and Measures: The prevalence of anxiety, obsessive compulsive disorder (OCD), autism, and attention-deficit/hyperactivity disorder (ADHD) was evaluated in individuals with and without keratoconus. The association between keratoconus and psychiatric comorbidities was tested using univariate and multivariant analyses. Results: Overall, 940â¯763 adolescents and adults were included. Mean (SD) age was 17.56 (1.47) years, and 59.3% were male. Keratoconus was documented in 1533 individuals, with a prevalence of 0.16%. Patients with keratoconus were more likely to be diagnosed with ADHD compared with the general population (odds ratio [OR], 1.58; 95% CI, 1.38-1.81; P < .001). After adjusting for age, sex, intellectual status, height, and weight, the results remained unchanged (hazard ratio, 1.46; 95% CI, 1.27-1.67; P < .001). Stratification according to age showed an association between keratoconus and ADHD for males (OR, 1.62; 95% CI, 1.39-1.90; P < .001) but not for females (OR, 1.29; 95% CI, 0.96-1.74; P = .09). Conclusions and Relevance: In a large cohort of adolescents and adults, ADHD was associated with a diagnosis of keratoconus in male patients, even after adjusting for possible confounders. Although a causative effect could not be ascribed, these findings support further investigation into the potential value of education regarding eye rubbing in this population.
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Trastorno por Déficit de Atención con Hiperactividad , Queratocono , Trastorno Obsesivo Compulsivo , Lobos , Adulto , Femenino , Adolescente , Animales , Humanos , Masculino , Trastorno por Déficit de Atención con Hiperactividad/diagnóstico , Trastorno por Déficit de Atención con Hiperactividad/epidemiología , Trastorno por Déficit de Atención con Hiperactividad/psicología , Estudios Transversales , Queratocono/diagnóstico , Queratocono/epidemiología , Queratocono/complicaciones , Trastorno Obsesivo Compulsivo/diagnóstico , Trastorno Obsesivo Compulsivo/epidemiología , Trastorno Obsesivo Compulsivo/psicologíaRESUMEN
Purpose: To describe clinical and molecular findings of two families with X-linked optic atrophy and present two new pathogenic variants in the WDR45 gene. Methods: Case series and molecular analysis of two families of Jewish Ashkenazi descent with early onset bilateral optic atrophy. Whole-exome sequencing (WES) and bioinformatic analysis were performed, followed by Sanger sequencing and segregation analysis. Results: In both families, male siblings (three in family 1, two in family 2) had early-onset isolated bilateral optic atrophy. The sibling's healthy mother (and in the second family also one healthy sister) had a mild presentation, suggesting a carrier state and an X-linked inheritance pattern. All participants were otherwise healthy, apart from mild learning disabilities and autism spectrum disorder in two siblings of the second family. Variants in known optic atrophy genes were excluded. Analysis revealed a point variant in the WDR45 gene-a missense variant in the first family, NM_001029896.2:c.107C>A; NP_001025067.1:p.Pro36His (variant ID: 1704205), and a splice site variant in the second family, NM_001029896.2:c.236-1G>T; NP_009006.2:p.Val80Leu (variant ID: 1704204), located on Xp11.23 (OPA2 locus). Both variants are novel and predicted as pathogenic. In both families, the variant was seen with full segregation with the disease, occurring in all affected male participants and in one allele of the carrier females, as well as none of the healthy participants. Conclusions: Among two families with isolated X-linked optic atrophy, molecular analysis revealed novel variants in the WDR45 gene in full segregation with the disease. This gene resides within the OPA2 locus, previously described to associate with X-linked optic atrophy. Taken together, these findings suggest that certain pathogenic variants in the WDR45 gene are associated with isolated X-linked optic atrophy.
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Trastorno del Espectro Autista , Enfermedades Genéticas Ligadas al Cromosoma X , Atrofia Óptica , Femenino , Humanos , Masculino , Enfermedades Genéticas Ligadas al Cromosoma X/genética , Atrofia Óptica/genética , Atrofia Óptica/patología , Mutación Missense , Linaje , Mutación , Proteínas Portadoras/genéticaRESUMEN
PURPOSE: To evaluate the correlation between keratoconus and systemic manifestations of tissue hyperlaxity in the general population. METHODS: In this population based cross-sectional study 940,763 medical records of Israeli adolescents and young adults in military service were reviewed. Demographic and medical data were extracted. The prevalence of ligament injuries, habitual orthopedic deformities and umbilical/inguinal hernia was evaluated in cases with and without keratoconus. The association was tested using uni- and multivariant analyses. RESULTS: Overall 938,411 adolescents and adults were included. Mean age was 17.55 ± 1.50 years, and 40.70% were female. Keratoconus was documented in 1,529 cases, with a prevalence of 0.16%. Compared to the general population, patients with keratoconus were significantly more likely to be diagnosed with genu varum/valgus (OR = 2.75, CI 1.48-5.13, p = 0.0015), pes planus (OR = 1.97, 95% CI: 1.62-2.38, p < 0.0001), scoliosis (OR = 1.88, 95% CI: 1.45-2.43, p < 0.0001) and umbilical/inguinal hernias (OR = 2.18, 95% CI: 1.47-3.24, p = 0.0001). On multivariate analysis the results remained significant (p < 0.05 for all). Joint injuries (ankle sprains, shoulder dislocation and injury to knee ligaments and menisci) were not significantly related to keratoconus (p > 0.05 for all). CONCLUSIONS: In this large cohort of adolescents and young adults, an association was found between keratoconus and connective tissue hyperlaxity manifestations involving the knees, feet, spine and abdomen. These findings suggest that keratoconus might be a manifestation of a generalized connective tissue disorder, rather than just a local ocular phenomenon.
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Queratocono , Adolescente , Adulto Joven , Humanos , Femenino , Adulto , Masculino , Queratocono/diagnóstico , Queratocono/epidemiología , Estudios Transversales , Tejido ConectivoRESUMEN
PURPOSE: To assess the additive potency of low-dose atropine combined with optical measures designed to decrease myopia progression. MATERIALS AND METHODS: This retrospective study included 104 myopic children aged 5-12 over 4 years, divided into five groups: daily instillation of 0.01% atropine and distance single-vision spectacles (A), 0.01% atropine and progressive addition lenses (A + PAL), 0.01% atropine and soft contact lens with peripheral blur (A + CL). Two control groups were included, prescribed bifocal spectacles or single vision (SV) spectacles. Cycloplegic spherical equivalence refraction was measured biannually, including 1 year after cessation of treatment. RESULTS: A significant decrease in myopia progression was noted during the 2nd and 3rd years of atropine treatment: A -0.55 ± 0.55D, -0.15 ± 0.15, -0.12 ± 0.12D were 1st, 2nd, 3rd years, respectively, A + PAL -0.47 ± 0.37D, -0.10 ± 0.25D, and -0.11 ± 0.25D were 1st, 2nd, 3rd years, respectively, A + CL -0.36 ± 0.43D, -0.13 ± 0.29D, and -0.10 ± 0.27D were 1st, 2nd, 3rd years, respectively. Myopia progression over 3 years, respectively, was -0.82 ± 0.50D, -0.70 ± 0.69D, -0.59 ± 0.66D in the bifocal group and -1.20 ± 1.28D, -0.72 ± 0.62D, -0.65 ± 0.47D in the SV group. One year after cessation of atropine treatment, myopia progression was - 0.32 ± 0.31D in A, -0.23 ± 0.28D in A + PAL, and -0.18 ± 0.35D in A + CL. CONCLUSION: Atropine 0.01% presented as effective at decelerating myopia progression, more prominent in the 2nd and 3rd years of treatment. Combining atropine 0.01% with optical modalities exhibited a trend for added efficacy over monotherapy. A + CL exhibited the least rebound effect 1 year after cessation of treatment.
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Purpose: This study sought to describe the phenotype frequency and genetic basis of inherited retinal diseases (IRDs) among a nationwide cohort of Israeli Jewish patients of Ethiopian ancestry. Methods: Patients' data-including demographic, clinical, and genetic information-were obtained through members of the Israeli Inherited Retinal Disease Consortium (IIRDC). Genetic analysis was performed by either Sanger sequencing for founder mutations or next-generation sequencing (targeted next-generation sequencing or whole-exome sequencing). Results: Forty-two patients (58% female) from 36 families were included, and their ages ranged from one year to 82 years. Their most common phenotypes were Stargardt disease (36%) and nonsyndromic retinitis pigmentosa (33%), while their most common mode of inheritance was autosomal recessive inheritance. Genetic diagnoses were ascertained for 72% of genetically analyzed patients. The most frequent gene involved was ABCA4. Overall, 16 distinct IRD mutations were identified, nine of which are novel. One of them, ABCA4-c.6077delT, is likely a founder mutation among the studied population. Conclusions: This study is the first to describe IRDs' phenotypic and molecular characteristics in the Ethiopian Jewish community. Most of the identified variants are rare. Our findings can help caregivers with clinical and molecular diagnosis and, we hope, enable adequate therapy in the near future.
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Enfermedades de la Retina , Retinitis Pigmentosa , Femenino , Humanos , Masculino , Judíos/genética , Israel/epidemiología , Linaje , Retina , Retinitis Pigmentosa/epidemiología , Retinitis Pigmentosa/genética , Mutación/genética , Análisis Mutacional de ADN , Transportadoras de Casetes de Unión a ATP/genéticaRESUMEN
PURPOSE: To assess the influence of iris color on the predisposition for intraoperative floppy iris syndrome (IFIS) during cataract surgery. METHODS: Medical records of patients who underwent cataract surgery in two medical centers between July 2019 and February 2020 were reviewed. Patients younger than 50 years, with preexisting ocular conditions affecting pupillary size or anterior chamber depth (ACD), and combined procedures were excluded. The remaining patients were questioned via telephone regarding their iris color. The association of IFIS occurrence and severity with iris color was tested using univariant and multivariant analyses. RESULTS: Overall, 155 eyes of 155 patients were included, 74 with documented IFIS and 81 without. The mean age was 74.03 ± 7.09 years, and 35.5% were female. The most common iris color among study eyes was brown (110/155, 70.97%), followed by blue (25/155, 16.13%) and green (20/155, 12.90%). Compared to brown-colored eyes, blue irises exhibited a 4.50-fold risk for IFIS (OR = 4.50, 95% CI: 1.73-11.70, p = 0.002), and green irises 7.00-fold risk (OR = 7.00, 95% CI: 2.19-22.39, p = 0.001). After adjusting for possible confounders, the results remained statistically significant (p < 0.01). Light-colored irises tended to exhibit a more severe IFIS compared to the brown iris group (p < 0.001). IFIS bilaterality was also affected by iris color (p < 0.001), with a 10.43-fold risk for fellow eye IFIS in the green iris group compared to eyes with brown irises (OR = 10.43, 95% CI: 3.35-32.54, p < 0.001). CONCLUSIONS: Light iris color was associated with a significantly increased risk of IFIS occurrence, severity, and bilaterality on univariate and multivariate analysis in this study.
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Catarata , Enfermedades del Iris , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Complicaciones Intraoperatorias/diagnóstico , Complicaciones Intraoperatorias/epidemiología , Iris , Enfermedades del Iris/diagnóstico , Síndrome , ColorRESUMEN
Nystagmus is an ocular condition characterized by bilateral involuntary ocular oscillation which can severely affect vision. When not associated with other ocular or systemic diseases, it is referred to as idiopathic or congenital motor nystagmus (CMN). Genome-wide linkage studies have previously identified several loci associated with CMN, however the genes responsible for some of these loci have yet to be identified. We have examined a large, five-generation family with autosomal dominant CMN. Our purpose was to characterize the clinical manifestations and reveal the molecular basis of the disease in this family. In addition to full ophthalmic examination and imaging, molecular analysis included copy number variation analysis, linkage studies, and Sanger sequencing. Expression analyses of candidate genes was done by real-time PCR. Of the 68 family members, 27 subjects in five-generations had CMN, in line with an autosomal dominant inheritance pattern. Molecular analysis was performed on 27 members, 15 of them affected by CMN. Copy number variation analysis using array comparative genomic hybridization (aCGH) revealed a novel deletion located on 1q32 (NYS7) among affected individuals. Linkage analysis using polymorphic markers demonstrated full segregation with a heterozygous haplotype in all affected patients, with a LOD score of >5. Sanger sequencing of affected subjects revealed a novel deletion of 732,526 bp in the linkage interval. No protein-coding genes exist within the deleted region; however, the deletion disrupts topologically associated domains encompassing the gene NR5A2 and the non-protein coding MIR181A. Both are strongly associated with other genes expressed in the retina such as PROX1, which in turn is also associated with genes related to nystagmus such as PAX6. We therefore hypothesized that the deletion might affect NR5A2 and MIR181A expression, causing CMN. Expression analysis by real-time PCR showed significantly lower expression of NR5A2, and significantly higher expression of PROX1 among patients compared with controls. To conclude, among a large five-generation family with autosomal dominant CMN, a large deletion in the interval of NYS7 was linked with the disease. No protein-coding genes exist inside the deleted region, and so the exact mechanism in which CMN is caused is uncertain. Based on topological association and expression analyses we suggest a possible mechanism for the pathogenesis.