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1.
Invest Ophthalmol Vis Sci ; 65(2): 39, 2024 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-38411968

RESUMO

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.


Assuntos
Distrofia Macular Viteliforme , Humanos , Israel/epidemiologia , Prevalência , Mutação , Estudos de Associação Genética , Bestrofinas
2.
Vision (Basel) ; 8(1)2024 Jan 19.
Artigo em Inglês | MEDLINE | ID: mdl-38391084

RESUMO

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.

3.
Artigo em Inglês | MEDLINE | ID: mdl-38183467

RESUMO

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.

4.
Can J Ophthalmol ; 2024 Jan 11.
Artigo em Inglês | MEDLINE | ID: mdl-38219792

RESUMO

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 < 0.1 × 10-36), whereas the strength of correlation differed. Very weak correlation was seen in central macular thickness (r = 0.189), and a weak correlation was seen in anterior-chamber depth (r = 0.379) and retinal nerve fibre layer thickness (r = 0.479). A strong correlation was seen in central corneal thickness (r = 0.754), and a very strong correlation was seen in axial length (r = 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.

5.
Eur J Ophthalmol ; 34(1): 119-125, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37128126

RESUMO

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 24 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 ± 38 mµ (9%) compared to 92 ± 80 mµ (13.5%) in the non- patched group (p = 0.04). Seven days post-operatively the CCT in the patched group decreased by 31 ± 35 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.


Assuntos
Catarata , Ceratoplastia Endotelial com Remoção da Lâmina Limitante Posterior , Distrofia Endotelial de Fuchs , Humanos , Células Endoteliais , Distrofia Endotelial de Fuchs/cirurgia , Distrofia Endotelial de Fuchs/diagnóstico , Córnea , Ceratoplastia Endotelial com Remoção da Lâmina Limitante Posterior/métodos , Implante de Lente Intraocular , Endotélio Corneano
7.
Retina ; 44(1): 78-82, 2024 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-37607406

RESUMO

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.


Assuntos
Cesárea , Descolamento Retiniano , Humanos , Feminino , Gravidez , Cesárea/efeitos adversos , Estudos Retrospectivos , Descolamento Retiniano/diagnóstico , Descolamento Retiniano/epidemiologia , Descolamento Retiniano/etiologia , Parto Obstétrico/efeitos adversos , Estudos de Coortes
8.
J Pediatr Ophthalmol Strabismus ; : 1-7, 2023 Dec 19.
Artigo em Inglês | MEDLINE | ID: mdl-38112389

RESUMO

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. 20XX;X(X):XXX-XXX.].

9.
JAMA Ophthalmol ; 141(12): 1145-1150, 2023 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-37943540

RESUMO

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, 940 763 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.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Ceratocone , Transtorno Obsessivo-Compulsivo , Lobos , Adulto , Feminino , Adolescente , Animais , Humanos , Masculino , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Transtorno do Deficit de Atenção com Hiperatividade/psicologia , Estudos Transversais , Ceratocone/diagnóstico , Ceratocone/epidemiologia , Ceratocone/complicações , Transtorno Obsessivo-Compulsivo/diagnóstico , Transtorno Obsessivo-Compulsivo/epidemiologia , Transtorno Obsessivo-Compulsivo/psicologia
10.
Invest Ophthalmol Vis Sci ; 64(13): 17, 2023 10 03.
Artigo em Inglês | MEDLINE | ID: mdl-37819743

RESUMO

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.


Assuntos
Transtorno do Espectro Autista , Doenças Genéticas Ligadas ao Cromossomo X , Atrofia Óptica , Feminino , Humanos , Masculino , Doenças Genéticas Ligadas ao Cromossomo X/genética , Atrofia Óptica/genética , Atrofia Óptica/patologia , Mutação de Sentido Incorreto , Linhagem , Mutação , Proteínas de Transporte/genética
11.
Taiwan J Ophthalmol ; 13(2): 231-237, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37484626

RESUMO

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.

12.
Cont Lens Anterior Eye ; 46(5): 101892, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-37479535

RESUMO

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.


Assuntos
Ceratocone , Adolescente , Adulto Jovem , Humanos , Feminino , Adulto , Masculino , Ceratocone/diagnóstico , Ceratocone/epidemiologia , Estudos Transversais , Tecido Conjuntivo
13.
Graefes Arch Clin Exp Ophthalmol ; 261(12): 3503-3510, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37341836

RESUMO

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.


Assuntos
Catarata , Doenças da Íris , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Complicações Intraoperatórias/diagnóstico , Complicações Intraoperatórias/epidemiologia , Iris , Doenças da Íris/diagnóstico , Síndrome , Cor
14.
Mol Vis ; 29: 1-12, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37287645

RESUMO

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.


Assuntos
Doenças Retinianas , Retinite Pigmentosa , Feminino , Humanos , Masculino , Judeus/genética , Israel/epidemiologia , Linhagem , Retina , Retinite Pigmentosa/epidemiologia , Retinite Pigmentosa/genética , Mutação/genética , Análise Mutacional de DNA , Transportadores de Cassetes de Ligação de ATP/genética
15.
Exp Eye Res ; 230: 109459, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-37001852

RESUMO

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.


Assuntos
Variações do Número de Cópias de DNA , Nistagmo Congênito , Humanos , Hibridização Genômica Comparativa , Ligação Genética , Padrões de Herança , Nistagmo Congênito/genética , Linhagem , Deleção Cromossômica
17.
Eye (Lond) ; 37(9): 1834-1839, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-36127423

RESUMO

OBJECTIVE: To evaluate the accuracy of the ABCD Progression Display and the ABCD grading system in a population of adult patients with keratoconus. METHODS: A retrospective cohort analysis of all adult patients with keratoconus followed at the Shamir Medical Center between 2012 and 2017. A recommendation by the cornea specialist to undergo corneal crosslinking (CXL) was used as a surrogate of ectasia progression. The ABCD grading was not available to the treating physician and was computed post-hoc. Sensitivity and specificity of the ABCD Progression Display was calculated, and multivariate regression was used to estimate the risk to undergo CXL when the ABCD Progression Display indicated progression. The ABCD grading was compared between patients who required CXL to those who did not. A single eye of each patient was included. Sensitivity and specificity of the ABCD Progression Display were 82% and 73%, respectively. A multivariable model adjusted for possible confounders, found that ABCD Progression was associated with a 7-fold risk of undergoing CXL compared to a patient in whom progression was not recorded in the ABCD Progression Display (OR = 7.55; 95% CI = 3.82-14.93, p < 0.001). RESULTS: 293 eyes of 293 patients were analysed. Mean age at presentation was 26.92 ± 6.12 years. In 68 eyes, progression of keratoconus was recorded and CXL was performed (CXL-group). CONCLUSION: The ABCD Progression Display demonstrated adequate sensitivity and specificity and high predictive capabilities of keratoconus progression. It can be effectively utilized as an initial screening test in adults with keratoconus.


Assuntos
Ceratocone , Fotoquimioterapia , Adulto , Humanos , Adulto Jovem , Ceratocone/diagnóstico , Ceratocone/tratamento farmacológico , Fármacos Fotossensibilizantes/uso terapêutico , Estudos Retrospectivos , Riboflavina/uso terapêutico , Colágeno/uso terapêutico , Reagentes de Ligações Cruzadas/uso terapêutico , Raios Ultravioleta , Topografia da Córnea
18.
Cornea ; 2023 Dec 28.
Artigo em Inglês | MEDLINE | ID: mdl-38166187

RESUMO

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.

19.
J Refract Surg ; 38(10): 668-673, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-36214349

RESUMO

PURPOSE: To assess the refractive prediction error of four intraocular lens (IOL) calculation formulas in eyes that have undergone scleral fixation using the four-flanged technique. METHODS: This was a retrospective cohort analysis of patients who underwent scleral fixation using the four-flanged technique at the Shamir Medical Center between 2020 and 2021. Refractive prediction errors for four IOL prediction formulas (Barrett Universal II, Holladay 1, SRK/T, and Kane) were obtained by subtracting the predicted spherical equivalent from the postoperative spherical equivalent. Mean arithmetic refractive prediction error and mean absolute error were calculated and compared. RESULTS: Twenty-three eyes of 23 patients were included in the analysis. The Akreos AO60 IOL (Bausch & Lomb, Inc) was implanted in 9 eyes and the BunnyLens HP IOL (Hanita Lenses) in 14 eyes. Mean age was 72.84 ± 13.2 years. All formulas produced myopic mean arithmetic refractive prediction error. Mean arithmetic refractive error and mean absolute error were equal in absolute number. Mean arithmetic refractive prediction errors were -0.72 diopters (D) for Barrett Universal II, -0.61 D for Holladay 1, -0.77 D for SRK/T, and -0.94 D for Kane formulas. The refractive outcome differed significantly from the predicted refraction in all formulas. There were no statistically significant differences in prediction errors between the formulas. CONCLUSIONS: Refractive outcomes of the four-flanged fixation technique produced myopic results compared to the predicted refraction for all formulas tested. This suggests that the effective lens position is more anterior than in-the-bag IOL implantation. [J Refract Surg. 2022;36(10):668-673.].


Assuntos
Lentes Intraoculares , Miopia , Facoemulsificação , Erros de Refração , Idoso , Idoso de 80 Anos ou mais , Biometria/métodos , Humanos , Implante de Lente Intraocular/métodos , Pessoa de Meia-Idade , Miopia/cirurgia , Óptica e Fotônica , Refração Ocular , Estudos Retrospectivos
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