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PurposeTo 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.MethodsThis 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.ResultsElevated 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.ConclusionThis study affirms previously established associations of CVD with certain variables and reveals a possible novel association of CVD with environmental factors.

AimsTo estimate the prevalence of amblyopia, present strabismus and amblyopia risk factors (ARFs) among young adults in Israel and to analyse trends over time of prevalence rates.MethodsWe conducted a cross-sectional study including 107 608 pre-enlistees aged 17.4±0.6 years born between 1971 and 1994. Across the birth years, the following trends of prevalence rates among young adults were analysed: prevalence of amblyopia, prevalence of strabismus, severity of amblyopia and prevalence of ARFs (strabismsus, anisometropia and isoametropia). Unilateral amblyopia was defined as best corrected visual acuity (BCVA) of <0.67 (6/9) in either eye or as an interocular difference of two lines or more. Bilateral amblyopia was defined as BCVA of <0.67 (6/9) in both eyes. The severity of amblyopia was classified as mild (BCVA ≥0.5 [6/12]), moderate (BCVA <0.5 [6/12] and ≥0.25 [6/24]) or severe (BCVA <0.25 [6/24]).ResultsThe prevalence of young adulthood amblyopia declined by 33%, from 1.2% to 0.8% (R2=0.87, p<0.001) across 24 birth years. This decline may be due to a drop in unilateral amblyopia from 1% to 0.6% (R2=0.93, p<0.001), while the prevalence of bilateral amblyopia remained stable (0.2%, p=0.12). The decline in amblyopia was apparent in mild and moderate amblyopia, but not in severe amblyopia. Strabismus and anisometropia were detected in 6–12% and 11–20% of subjects with unilateral amblyopia, respectively, without significant trends. Strabismic amblyopia remained constant in the entire population across years. Isoametropia was detected in 46–59% of subjects with bilateral amblyopia without a significant trend across birth years. Prevalence of strabismus in the study population decreased by 50%, from 1.2% to 0.6% (R2=0.75, p<0.001). In subjects with present strabismus, the prevalence of mild unilateral amblyopia increased, while moderate or severe unilateral amblyopia remained relatively stable.ConclusionAmong young adults, the prevalence of unilateral amblyopia, as well as the prevalence of present strabismus, decreased significantly over a period of a generation. The prevalence of strabismic, bilateral or severe (both unilateral and bilateral) amblyopia remained stable. The establishment of the national screening programme for children and the improved utility of treatment for amblyopia and strabismus coincide with these trends. Thus, it is possible that these early interventions resulted in modification of the ‘natural history’ of these conditions and their prevalence in adolescence.

PurposeTo explore what the current worldwide preferred practice patterns of pediatric ophthalmologists are to decrease myopia progression among their patients.MethodsA questionnaire was sent to all members of supranational and national pediatric ophthalmology and strabismus societies.ResultsThe questionnaire was fully completed by most respondents 90.10% (847 of 940 responses). Fifty-seven percent (457) routinely treat to decrease myopia progression. The most common parameter to initiate treatment was a myopic increase of 1 diopter/year or more (74.8%, 246). Seventy percent (345) prescribed eye drops. Atropine 0.01% was the most popular (63.4%, 277) followed by atropine 1% (10.9%, 48) and atropine 0.5% (8.9%, 39). Eighty-six percent (394) of the respondents advised to spend more time outdoors, to reduce the amount of time viewing screens (60.2%, 277), and cutback the use of smart phones (63.9%, 294).ConclusionsMost pediatric ophthalmologists treat to decrease myopia. They employ a wide variety of means to decrease myopia progression. Atropine 0.01% is the most popular and safe modality used similarly to recent reports. However, there is no consensus when treatment should be initiated. Further prospective studies are needed to elucidate the best timing to start treatment and the applicability of recent studies in the Asian population to other ethnic groups. This will improve the ability to update pediatric ophthalmologist with evidenced-based treatment options to counter the myopia epidemic.

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.

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.

Background Workforce diversity in healthcare has been shown to improve the quality of patient care. A paucity of data exists globally on this subject in ophthalmology. The purpose of this study was to analyze nationwide trends in gender-, ethnic- and country of graduation disparities among ophthalmologists in Israel. Methods Cross-sectional, workforce-based study using data retrieved from the Israeli Ministry of Health. Data included gender, ethnicity, and medical graduation country. Proportions and trends among new residents and board-certified ophthalmologists (BCO) were assessed. Results During 2006–2021, 18,624 medical licenses were issued (41.7% Israeli Medical Graduates (IsrMGs), 42.2% female), average yearly increase (AYI) was 6.9%, females and IsrMGs had an average yearly decrease of 1% and 0.53%, respectively. 561 physicians began ophthalmology residency (57.5% male, 75% Jewish, 69.9% IsrMGs), reflecting a 6.2% total AYI, but 8.1% and 4.8% for female versus male residents, respectively. There were fewer female residents despite population and graduate pool adjustments ( p  = 0.002 and p  = 0.002, respectively), but differences disappeared after 2015 ( p  = 0.52). Arab and Jewish residents AYIs were 6.4% and 5.7% respectively, with ethnic differences elucidated by adjusting for population sizes ( p  = 0.097). BCO densities in 2006 and 2021 were 7.5 and 9.06, respectively, with a 1.3% AYI ( p  < 0.001). Proportions of female and Arab BCO were lower than expected based on population proportions. ( p  < 0.001 and p  < 0.001, respectively). Gender-differences remained after adjusting for population sizes ( p  < 0.001), but AYIs for female and male BCO were 1.38% and 1.15%, respectively. AYIs for Arab and Jewish BCO were 12% and 0.61%, respectively. Conclusions Jewish and male dominance was seen among Israeli BCOs and was unrelated to population size or graduate distribution. Among new ophthalmology residents, Arab representation was adequate to their population proportion. In early years, male predominance was noted, however this disparity was no longer evident after 2015. These trends are encouraging, and efforts should be made to ensure the field remains inclusive and representative of the broader population.

Background: Syndromic inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders, involving the retina and additional organs. Over 80 forms of syndromic IRD have been described. Methods: We aimed to phenotypically and genotypically characterize a cohort of 171 individuals from 140 Israeli families with syndromic IRD. Ophthalmic examination included best corrected visual acuity, fundus examination, visual field testing, retinal imaging and electrophysiological evaluation. Most participants were also evaluated by specialists in fields relevant to their extra-retinal symptoms. Genetic analyses included haplotype analysis, homozygosity mapping, Sanger sequencing and next-generation sequencing. Results: In total, 51% of the families in the cohort were consanguineous. The largest ethnic group was Muslim Arabs. The most common phenotype was Usher syndrome (USH). The most common causative gene was USH2A. In 29% of the families, genetic analysis led to a revised or modified clinical diagnosis. This included confirmation of an atypical USH diagnosis for individuals with late-onset retinitis pigmentosa (RP) and/or hearing loss (HL); diagnosis of Heimler syndrome in individuals with biallelic pathogenic variants in PEX6 and an original diagnosis of USH or nonsyndromic RP; and diagnosis of a mild form of Leber congenital amaurosis with early-onset deafness (LCAEOD) in an individual with a heterozygous pathogenic variant in TUBB4B and an original diagnosis of USH. Novel genotype–phenotype correlations included biallelic pathogenic variants in KATNIP, previously associated with Joubert syndrome (JBTS), in an individual who presented with kidney disease and IRD, but no other features of JBTS. Conclusions: Syndromic IRDs are a highly heterogeneous group of disorders. The rarity of some of these syndromes on one hand, and the co-occurrence of several syndromic and nonsyndromic conditions in some individuals, on the other hand, complicates the diagnostic process. Genetic analysis is the ultimate way to obtain an accurate clinical diagnosis in these individuals.

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.