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PURPOSE: To analyze characteristics and trends of strabismus surgeries in an Israeli hospital over 2 decades. METHODS: A descriptive, retrospective study including all strabismus surgeries (666) performed during 2000-2019 at an Israeli tertiary hospital. Electronic medical records (EMRs) were directly retrieved to produce an anonymized database. RESULTS: No trends were evident for age, sex, or ethnicity (p = .294, 0.914 and p = .167, respectively). The mean number of horizontal muscles remained stable, while an increase was noted in the mean number of muscles operated on to repair vertical strabismus (p < .0001). Among acquired cases, a 2.67-fold increase was noted in the proportion of spontaneous strabismus and a decrease of traumatic causes to a third (p < .001). An increase was noted in the proportion of exotropia among horizontal strabismus corrections (p = .022), and esotropia correction techniques distribution changed (p = .004). Reoperations comprised a third of all cases during both decades (p = .198). Reoperations were more prevalent among younger and Jewish patients (p < .001 and p = .024, respectively). Techniques to correct esotropia and exotropia differed significantly between primary surgeries and reoperations (p < .00001 each). CONCLUSIONS: The complexity of surgical techniques increased over time. Ethnic minorities were less prone to reoperations.
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Músculos Oculomotores , Procedimientos Quirúrgicos Oftalmológicos , Estrabismo , Centros de Atención Terciaria , Humanos , Centros de Atención Terciaria/estadística & datos numéricos , Centros de Atención Terciaria/tendencias , Masculino , Estudios Retrospectivos , Femenino , Estrabismo/cirugía , Músculos Oculomotores/cirugía , Procedimientos Quirúrgicos Oftalmológicos/tendencias , Procedimientos Quirúrgicos Oftalmológicos/estadística & datos numéricos , Niño , Adulto , Adolescente , Persona de Mediana Edad , Preescolar , Israel/epidemiología , Reoperación/estadística & datos numéricos , Reoperación/tendencias , Adulto Joven , Anciano , Lactante , Anciano de 80 o más AñosRESUMEN
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
OBJECTIVES: To assess height and weight as possible sex-specific risk factors for bilateral myopia among young adults. METHODS: We conducted a cross-sectional study including 101,438 pre-enlisted young adult males and females, aged 17.4 ± 0.6 and 17.3 ± 0.5 years, respectively, and born during 1971-1994. Categories of BMI (body mass index) were defined according to sex-related percentiles for 17-year-olds following U.S. Centers for Disease Control and Prevention growth charts, and subjects were divided into five height and weight categories according to sex-adjusted percentiles. Data included best-corrected visual acuity, diverse socio-demographic variables, anthropometric indices, and refractive errors, namely bilateral myopes and emmetropes. RESULTS: The prevalence of bilateral myopia in males and females was 19.1% and 26.0%, respectively. Bilateral myopia displayed a J-shaped associated with BMI, achieving statistical significance only among males (p < 0.0001). Weight displayed a U-shaped association with bilateral myopia among both young males (p < 0.0001) and females (p < 0.005). A higher prevalence of bilateral myopia was observed only among males of the lower height category (p < 0.0001), even when controlling for BMI (from normal to obesity). In a multivariable regression model, obesity was associated with higher prevalence of bilateral myopia (OR: 1.21; 95% CI: 1.07-1.38, p = 0.002), only among males. There were no interactions of BMI with height or weight. Bilateral myopia was also associated with prehypertension among males (OR: 1.10, 95% CI: 1.04-1.15, p < 0.001). CONCLUSIONS: A higher risk for bilateral myopia was associated with either BMI solely or height and weight, as well as pre-hypertension, in males. The possible association with low height requires further research.
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Estatura , Índice de Masa Corporal , Peso Corporal , Miopía , Humanos , Masculino , Femenino , Miopía/epidemiología , Miopía/fisiopatología , Estudios Transversales , Adolescente , Prevalencia , Estatura/fisiología , Factores de Riesgo , Peso Corporal/fisiología , Factores Sexuales , Agudeza Visual/fisiología , Adulto Joven , Distribución por SexoRESUMEN
BACKGROUND: To better understand and analyze various aspects of scientific publication, bibliometric data analysis is useful. OBJECTIVES: An analysis of the factors associated with shorter publication times in pediatric ophthalmology and strabismus (POS) between the years 2002 and 2007, compared to 2014 and 2018. METHODS: In this retrospective bibliometric analysis, we analyzed 2,487 articles related to POS from the official websites of 8 preselected ophthalmology journals. Time from submission to acceptance, from acceptance to publication, and from submission to publication were calculated for each article. RESULTS: Median peer review durations were 156 days from submission to acceptance; 79 days from acceptance to publication, and 244 days from submission to publication. Journals such as the American Journal of Ophthalmology, JAMA Ophthalmology, and Strabismus reported the shortest time from submission to publication. Annually, all time intervals decreased, but in the first decade, the decline was significantly greater. The time between submission and acceptance of female senior authors increased during the first decade; however, this disappeared during the second decade. CONCLUSIONS: There was an improvement in most journals and the gender gap in senior authorship decreased with time. DISCUSSION: Since digital technology has rapidly developed over the past two decades, authors have been able to communicate with editorial and production teams more quickly and efficiently. Journal names and the gender of the last author are the main factors affecting publication times.
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Oftalmología , Humanos , Femenino , Niño , Estudios Retrospectivos , Bibliometría , Factores de Tiempo , AutoriaRESUMEN
PURPOSE: To describe and analyze characteristics and trends of pediatric ocular trauma during 2011-2020. METHODS: Retrospective descriptive study. Data were collected on all pediatric ocular trauma cases that presented to a Rambam Health Care Campus during 2011-2020. Data included age, gender, visual acuity, diagnosis, injury mechanism and surgical repair. RESULTS: Median BCVA at presentation was 0.96 (logMAR). Males and non-adolescent males specifically were the most prominent groups (70.6% and 44.7%, respectively). The ratio of ocular trauma cases to total pediatric emergency department (ED) visits was stable during 2011-2020 (p = 0.714) regardless of gender (p = 0.832 and p = 0.545 for boys and girls, respectively). The leading causes were partial thickness eyelid laceration, periorbital hematoma, and extraocular muscle contusion, all of which were stable over the study period (p = 0.678, p = 0.203 and p = 0.398, respectively). Falls and children play were the most common mechanisms (25.8% and 18.4%, respectively), but differed between age groups. Most patients did not require consecutive operation and were treated conservatively (p < 0.01). CONCLUSION: Pediatric ocular injuries to pediatric ED visits ratio remained stable during 2011-2020, regardless of gender. Non-adolescent males accounted for nearly half of all cases, with different mechanisms for each age group. Consecutive surgery was rarely necessary.
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PURPOSE: To establish the clinical necessity of routine targeted ophthalmic examination of newborns with congenital cytomegalovirus (CMV) infection during the neonatal period. METHODS: This retrospective study included consecutive neonates that were referred for ophthalmological screening within the context of a proven congenital CMV infection. The presence of CMV-related ocular and systemic findings was determined. RESULTS: Among the 91 patients included in this study, 72 (79.12%) were symptomatic with one or more of the following manifestations: abnormal brain ultrasound (42; 46.15%), small for gestational age (29; 31.87%), microcephaly (23; 25.27%), thrombocytopenia (14; 15.38%), sensory neural hearing loss (13; 14.29%), neutropenia (12; 13.19%), anemia (4; 4.4%), skin lesions (4; 4.4%), hepatomegaly (3; 3.3%), splenomegaly (3; 3.3%), direct hyperbilirubinemia (2; 2.2%). Not one single neonate in this cohort had any of the ocular findings surveyed. CONCLUSION: The presence of ophthalmological findings among neonates with congenital CMV infection during the neonatal period is infrequent, suggesting that routine ophthalmological screening may be safely deferred for the post-neonatal period.
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Infecciones por Citomegalovirus , Citomegalovirus , Humanos , Recién Nacido , Estudios Retrospectivos , Infecciones por Citomegalovirus/diagnóstico , Encéfalo , OjoRESUMEN
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 provide a bibliographical-historical perspective and main interest in the field of myopia. Methods: In this bibliographic study, the Web of Science Database was searched from 1999 to 2018. Recorded parameters included journal name, impact factor, year and language, number of authors, type and origin, methodology, number of subjects, funding, and topics. Results: Epidemiological assessments were the leading type of article (28%), and half of the papers were prospective studies. The number of citations for multicenter studies was significantly higher (P = 0.034). The articles were published in 27 journals, with the majority in Investigative Ophthalmology, Vision Sciences (28%), and Ophthalmology (26%). Etiology, signs and symptoms, and treatment equally encompassed the topics. Papers addressing etiology, specifically genetic and environmental factors (P = 0.029), signs and symptoms (P = 0.001), and prevention, specifically public awareness (47%, P = 0.005), received significantly more citations. Treatment to decrease myopia progression was a much more common topic (68%) than refractive surgery (32%). Optical treatment was the most popular modality (39%). Half of the publications came from 3 countries: the United States (US), Australia, and Singapore. The highest ranked and cited papers came from the US (P = 0.028) and Singapore (P = 0.028). Conclusions: To our knowledge, this is the first report of the top-cited articles on myopia. There is a predominance of epidemiological assessments and multicenter studies originating from the US, Australia, and Singapore, assessing etiology, signs and symptoms, and prevention. These are more frequently cited, emphasizing the great interest in mapping the increase in the incidence of myopia in different countries, public health awareness, and myopia control.
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PURPOSE: To summarize the characteristics and trends of interest in retinoblastoma (Rb) in the last 50 years. METHODS: The Web of Science Database was used to find all studies focused on Rb published from 1970 to 2018. The term "retinoblastoma" was used to search for the 100 most cited records. RESULTS: The mean number of citations was 153.55 ± 88.9. The majority were from the United States (US) (n = 68). Drs. Shields authored 38% of the papers. The number of citations per year was positively correlated with the number of authors, r = 0.26 (p = 0.008). The number of patients was significantly associated with the number of citations per year (p = 0.012). Although papers on radiotherapy were the most common, publications about intra-arterial chemotherapy (IAC) were associated with 88.3% more citations per year (p = 0.031) and papers on intravenous chemotherapy (IVC) were associated with 40.3% more citations per year (p= 0.04). Review and meta-analysis studies had a higher median of citations (10.5) than interventional (6.4) or observational (5.2) studies. CONCLUSIONS: This study compiles a comprehensive analysis of the most-cited articles on Rb. Studies with a higher number of citations per year were associated with IAC, which emphasizes the significance of the advances in Rb treatments that allow for the saving of eyes and vision as well as lives. Review studies had more citations than observational or interventional studies. More citations were associated with a larger number of authors or more reported patients per paper. These findings highlight the importance of collaborations to achieve relevant, high-quality research of Rb.
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PURPOSE: To investigate and compare the demographics, diagnoses, and surgical procedure types of strabismus repair in public and private hospitals in Israel in order to highlight possible disparities between them. METHODS: Retrospective descriptive study included all strabismus surgeries in seven private hospitals, compared with two large public university-affiliated hospitals from June 2016 to June 2021. Electronic medical records were directly retrieved to produce an anonymized database. RESULTS: During the study period 2420 operations were performed. Patients who underwent strabismus surgery in public hospitals were older and had shorter procedures (p < 0.001 and p = 0.004, respectively). The median number of operated muscles and the prevalence of bilateral procedures were higher in private hospitals (p < 0.001 and p < 0.001, respectively). Surgery for common strabismus, especially esotropia, was more prevalent in private (p < 0.001), whereas surgery for vertical strabismus, cranial nerve palsies and complex syndromes were performed more often in public hospitals (p < 0.001, p = 0.008, and p < 0.001, respectively). Rectus recession and inferior oblique (IO) anteriorization were more predominant in private hospitals (p = 0.002 and p < 0.001, respectively), while recuts advancement and IO myectomies were more prevalent in public ones (p = 0.001 and p < 0.001, respectively). Reoperations were far more common in public hospitals (27.2% vs 6.2%, p < 0.0001). This was true across most age groups. CONCLUSIONS: Candidates for strabismus surgery in private hospitals in Israel are often younger, with more common diagnoses, and are usually referred for simpler procedures.
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Esotropía , Estrabismo , Humanos , Estudios Retrospectivos , Músculos Oculomotores/cirugía , Estrabismo/cirugía , Esotropía/cirugía , Reoperación , Procedimientos Quirúrgicos Oftalmológicos/métodos , Resultado del TratamientoRESUMEN
OBJECTIVES: Analyse trends in incidence and aetiologies of childhood blindness (CHB) in Israel during 2014-2020, with comparison to the previous decade. METHODS: Descriptive, retrospective population-based trend study using Poisson regression. Data retrieved from the Israeli National Registry of the Blind included demographics, registration-years, and aetiologies. Primary and secondary outcomes were incidence of new certified blindness cases and its comparison with the previous decade, respectively. RESULTS: In total, 4.19 new CHB certificates per 100,000 were issued in Israel during 2014-2020, with a slight non-significant increase (p = 0.31). Males and younger children had higher incidence rates (p = 0.0008 and p = 0.0002, respectively). Leading causes were optic nerve anomalies (ONA), retinal dystrophies (RDYS), other retinal disorders (ORD) and cerebral visual impairment (CVI) (16.9%, 15.1%, 12.4% and 10.5%, respectively). Compared with the previous decade: ONA rates remained unchanged (p = 0.13) as did some other main aetiologies (i.e., albinism, CVI and nystagmus), while rates of RDYS and ORD increased (by 21.9%, p = 0.001 and 9.9% p = 0.02, respectively). Rates of retinopathy of prematurity (ROP), glaucoma, cataract and amblyopia remained very low (weighted average of 0.15, 0.14, 0.09 and 0.03 per 100,000, respectively). CONCLUSIONS: The incidence of CHB certifications in Israel remained stable with a slight increase, stemming chiefly from RDYS resurgence and an increase in ORD. Main causes remained ONA and RDYS. The most common avoidable cause, ROP, remained scarce, maintaining the reduction seen in the earlier decade, as did cataract, glaucoma, and amblyopia. This may support future nationwide prevention policies to decrease the incidence of RDYS and ORD.
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Ambliopía , Catarata , Glaucoma , Distrofias Retinianas , Retinopatía de la Prematuridad , Niño , Masculino , Recién Nacido , Humanos , Ceguera/epidemiología , Ceguera/etiología , Incidencia , Israel/epidemiología , Estudios Retrospectivos , Trastornos de la Visión , Retinopatía de la Prematuridad/epidemiología , Distrofias Retinianas/complicaciones , Catarata/epidemiología , Glaucoma/epidemiología , Glaucoma/complicacionesRESUMEN
AIM: To analyze the top 100 most cited papers related to amblyopia. METHODS: A bibliographic search in the Institute for Scientific Information Web of Knowledge across 55 years was performed. RESULTS: Eighty-nine of the 100 papers were published in first-quartile journals. Half (50) of the senior authors were from the USA. Most papers dealt with clinical science (72) and included original research (84). Forty-two of the articles related to all three types of amblyopia (refractive, strabismic and deprivation). Thirty-four related to both strabismic and refractive amblyopia. Around two-thirds of the papers dealt with treatment (34) and pathophysiology (30). Almost a quarter (23%) of the papers were multicenter studies. Nearly half (48) of the papers were published between 2000 and 2010. The Pediatric Eye Disease Investigator Group (PEDIG) published the highest number of studies (11), which dealt more with treatment (p = 0.01) and had higher average number of citations per years (p = 0.05). A larger number of articles on the treatment of amblyopia are newer (p = 0.01). There was no correlation between the time of their publication and the number of citations (p = 0.68, r = 0.042). CONCLUSIONS: Half of the papers were published between 2000 and 2010 and were spearheaded by PEDIG. Most papers dealt with treatment and pathophysiology. This study provides an important historical perspective, emphasizing the need for additional research to better understand this preventable and curable childhood vision impairment.
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Ambliopía , Niño , Humanos , Ambliopía/terapia , Refracción Ocular , Pruebas de VisiónRESUMEN
BACKGROUND: The prevalence of myopia keeps increasing during the COVID-19 pandemic. We aimed to map the worldwide treatment preferences of ophthalmologists managing myopia control during the first wave of the pandemic. METHODS: An online questionnaire inquiring about pharmacological and optical treatment patterns during the first half of 2020 was sent to pediatric ophthalmology as well as general ophthalmology memberships worldwide. The results among pediatric ophthalmologists were compared to a previous study we performed before the pandemic. RESULTS: A total of 2269 respondents from 94 countries were included. Most respondents were pediatric ophthalmologists (64.6%), followed by ophthalmologists from other subspecialties (32.3%). The preferred modality for all geographical regions was a combination therapy of pharmacological and optical treatments. When evaluated independently, the pharmacological treatment was more popular than the optical treatment in most regions other than East Asia (P < 0.001). Compared to a pre-pandemic questionnaire, the participation of pediatric ophthalmologists affiliated with non-university hospitals increased. Additionally, the prevalence of respondents utilizing either any type of pharmacological treatment and those that using only evidence-based treatments increased globally. Although a decline in the use of optical treatment was evident worldwide, the use of evidence-based optical treatments increased. CONCLUSION: Ophthalmologists around the world preferred a combination therapy of pharmacological and optical treatments. More pediatric ophthalmologists treated myopia progression and preferred a better evidence-based approach to control myopia. These trends reflect a positive response and more awareness of the rising prevalence of myopia due to the increased burden of myopia imposed by the COVID-19 pandemic.
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COVID-19 , Miopía , Oftalmólogos , Oftalmología , Estrabismo , Niño , Humanos , COVID-19/epidemiología , Pandemias , Encuestas y Cuestionarios , Estrabismo/epidemiología , Miopía/epidemiología , Miopía/terapiaRESUMEN
PURPOSE: To perform a nationwide analysis of trends in the incidence of etiologies for legal blindness in Israel during 2009-2020, and to compare the results with those of the previous decade. DESIGN: Descriptive, retrospective population-based trend study. METHODS: Data were retrieved from the Israeli National Registry of the Blind during 2009-2020. Data obtained included demographics, years of registration, and causes. Primary and secondary outcomes were the incidence of new certified blindness cases and its comparison with that of the previous decade, respectively. RESULTS: The age-standardized incidence rate of blindness in Israel decreased from 15.76 per 100,000 residents in 2009 to 11.83 in 2020, a 24.9% drop. The mean annual decline was evident until 2013 (P < .001, 6.15%), but subsequently flattened (P = .71, 0.42%). Age-related macular degeneration (AMD), glaucoma, optic atrophy, and cataract decreased until 2014, and reached a plateau that was maintained until the end of the study period. Diabetic retinopathy (DR) incidence rates diminished throughout the decade (P < .001, 9.2%), with attenuation of the rate of decline after 2014. CONCLUSIONS: The impact of efforts to reduce the incidence of preventable causes of blindness may have nearly reached saturation for most of the leading causes of blindness in Israel, namely, AMD, glaucoma and cataract. The incidence of DR has been maintained; however, attenuation has been observed. New modalities to detect and treat these causes may have to emerge before a resurgence of improvement can occur.
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Catarata , Retinopatía Diabética , Glaucoma , Degeneración Macular , Ceguera/epidemiología , Ceguera/etiología , Catarata/complicaciones , Catarata/epidemiología , Retinopatía Diabética/complicaciones , Retinopatía Diabética/diagnóstico , Retinopatía Diabética/epidemiología , Glaucoma/complicaciones , Glaucoma/epidemiología , Humanos , Incidencia , Israel/epidemiología , Degeneración Macular/complicaciones , Estudios RetrospectivosRESUMEN
PURPOSE: To assess the associations between the prevalence of congenital color vision deficiency (CVD) and genetics and environment, represented by place of origin (ethnic background) and place of birth, respectively. METHODS: This is a retrospective study of the computerized database of the northern recruitment center of Israel of 53,895 consecutive male Jewish conscripts 16-19 years old, who completed the medical profiling process between 1988 and 2011. CVD was diagnosed using the 24-pseudo-isochromatic plate Ishihara test. Associations of CVD prevalence with sociodemographic variables, anthropometric indices, refractive errors, and mainly place of origin and place of birth were tested by both univariate analysis and multivariate regression models. RESULTS: Elevated BMI (obesity) and blood pressure (hypertension), as well as myopia, were all positively associated with congenital CVD. The composition of the study population provides a unique opportunity to investigate the relationship between ethnicity and environment. The prevalence of CVD significantly differs among subpopulations of different ethnic background as well as among those who were born in different geographical locations. Additionally, differences in the prevalence of CVD (1.2-1.6%) were observed among conscripts from the same origin, who were born in Israel, compared to those who were born elsewhere. Both place of origin (p < 0.01) and place of birth (p < 0.05) were associated with the prevalence of CVD in a multivariable regression model. CONCLUSION: This study affirms previously established associations of CVD with certain variables and reveals a possible novel association of CVD with environmental factors.
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Defectos de la Visión Cromática , Miopía , Errores de Refracción , Adolescente , Adulto , Defectos de la Visión Cromática/diagnóstico , Defectos de la Visión Cromática/epidemiología , Humanos , Masculino , Miopía/epidemiología , Prevalencia , Estudios Retrospectivos , Adulto JovenRESUMEN
FAM161A mutations are the most common cause of autosomal recessive retinitis pigmentosa in the Israeli-Jewish population. We aimed to characterize the spectrum of FAM161A-associated phenotypes and identify characteristic clinical features. We identified 114 bi-allelic FAM161A patients and obtained clinical records of 100 of these patients. The most frequent initial symptom was night blindness. Best-corrected visual acuity was largely preserved through the first three decades of life and severely deteriorated during the 4th-5th decades. Most patients manifest moderate-high myopia. Visual fields were markedly constricted from early ages, but maintained for decades. Bone spicule-like pigmentary changes appeared relatively late, accompanied by nummular pigmentation. Full-field electroretinography responses were usually non-detectable at first testing. Fundus autofluorescence showed a hyper-autofluorescent ring around the fovea in all patients already at young ages. Macular ocular coherence tomography showed relative preservation of the outer nuclear layer and ellipsoid zone in the fovea, and frank cystoid macular changes were very rare. Interestingly, patients with a homozygous nonsense mutation manifest somewhat more severe disease. Our clinical analysis is one of the largest ever reported for RP caused by a single gene allowing identification of characteristic clinical features and may be relevant for future application of novel therapies.
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Proteínas del Ojo/genética , Mutación , Retinitis Pigmentosa/genética , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Alelos , Niño , Preescolar , Estudios de Cohortes , Electrorretinografía , Femenino , Fondo de Ojo , Genes Recesivos , Humanos , Israel , Judíos/genética , Masculino , Persona de Mediana Edad , Ceguera Nocturna/genética , Retinitis Pigmentosa/diagnóstico , Tomografía de Coherencia Óptica , Agudeza Visual/genética , Campos Visuales/genética , Adulto JovenRESUMEN
PURPOSE: To determine the electroretinographical and psychophysical parameters that can help to verify patients' complaints of reduced night vision. METHODS: We tested 275 consecutive patients with normal appearing fundi, complaining of visual difficulties at night, using flash electroretinography (ERG) and dark adaptation (DA) test. Two ERG parameters were used to assess a scotopic retinal function: the amplitude of the response to dim blue flash (the rod response) and the b-wave ratio (measured/expected). Dark adaptation was measured with green- and red-light stimuli after exposure to a bright, bleaching light. The psychophysical parameter of night vision was defined as the threshold for detection of the blue-green stimulus that was measured after 40-45 min in complete darkness. RESULTS: Fifty-five patients were excluded from the analysis because of a discrepancy between the two ERG parameters in assessment of scotopic retinal function. The remaining 220 patients were divided into 4 groups: (1) normal ERG and normal DA, (2) subnormal ERG and subnormal DA, (3) normal ERG and subnormal DA and (4) subnormal ERG and normal DA. The ERG and DA tests supported the complaint of visual difficulties at night in 67 patients (group 2), while 34 patients were characterized as having normal scotopic visual function (group 1). The other 119 patients (groups 3 and 4) presented a diagnostic dilemma because one test (ERG or dark adaptation) showed normal scotopic function, while the other indicated subnormal scotopic function. CONCLUSION: Our findings indicate that ERG is an essential, but not sufficient test for verifying patient's complaint on visual difficulties in the dark. We suggest using both electroretinography and psychophysical dark adaptation to test patients complaining of reduced night vision.