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1.
Ophthalmic Genet ; 43(4): 450-453, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-35382690

RESUMO

OBJECTIVE: Turner syndrome (TS) is associated with abnormalities across several organ systems, including the visual system. There is a relative paucity of literature describing ophthalmic manifestations of TS. We sought to investigate eye manifestations in our cross-sectional population of pediatric TS patients. METHODS: All patients managed by the TS program of a tertiary children's hospital were identified. Patients with documentation of at least one eye exam were included for analysis. Chart review was retrospectively performed to identify all documented ocular abnormalities as well as patient demographics, including TS karyotype. Statistical analysis was performed to identify any association between karyotype and ocular abnormality. RESULTS: A total of 187 patients with TS were identified. The mean age of the cohort was 14.3 ± 7.2 years. Ametropia was the most common ocular abnormality, occurring in 79 patients (42%), followed by strabismus in 25 (13%). Of the patients with strabismus, 17 had exotropia and 8 had esotropia, with only 2 patients requiring surgical intervention. Posterior segment abnormalities were identified in five patients without accompanying visual deficits. Two patients had ocular tumors: one with retinoblastoma and one with retinal astrocytic hamartoma. There was no association between TS karyotype and occurrence of ocular abnormalities. CONCLUSION: Ophthalmic manifestations of TS were common, particularly ametropia and strabismus. Management of strabismus was conservative in the vast majority of patients. Ocular manifestations were not associated with TS karyotype. Early screening and routine ophthalmic evaluation of patients with TS is needed to prevent progression of potentially vision-threatening abnormalities.


Assuntos
Erros de Refração , Estrabismo , Síndrome de Turner , Adolescente , Adulto , Criança , Estudos Transversais , Humanos , Estudos Retrospectivos , Síndrome de Turner/complicações , Síndrome de Turner/diagnóstico , Síndrome de Turner/genética , Adulto Jovem
2.
Am J Ophthalmol Case Rep ; 23: 101151, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34189345

RESUMO

PURPOSE: Norrie disease is a rare X-linked recessive vitreoretinopathy. Variants of the NDP gene are associated with this condition. This case reports aims to demonstrate the variations of clinical presentations and exam findings of this disease. OBSERVATIONS: A retrospective chart review of the patient's ocular and systemic findings and imaging results was performed. The patient had received genetic testing, including mutational analysis of targeted genes associated with retrolental masses. The patient had a comprehensive eye exam for bilateral leukocoria, demonstrating large retrolental masses, anterior polar cataracts, stretched ciliary processes, and roving eye movements. B-scan ultrasonography and magnetic resonance imaging indicated total, funnel-shaped retinal detachments, which is a unique retinal configuration in Norrie disease. Genetic testing confirmed deletion of the coding region of all three exons in the NDP gene, which confirmed Norrie disease. He has not shown any extraocular involvement to date. CONCLUSIONS AND IMPORTANCE: This is a case demonstrating the association between deletion of the coding region NDP gene and Norrie disease. The phenotypical variation of this disease warrants further studies of genotype-phenotype correlations and mutations of the NDP gene.

3.
J Ophthalmic Vis Res ; 15(3): 326-330, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32864063

RESUMO

PURPOSE: To evaluate the long-term visual outcomes of ab externo trabeculotomy for primary congenital glaucoma (PCG) at a single pediatric ophthalmology center. METHODS: In this retrospective single-center case series, data from 63 eyes of 40 patients who underwent ab externo trabeculotomy between September 2006 and June 2018 were included. The data were analyzed for best corrected visual acuity (BCVA), stereopsis, and surgical success. Kaplan-Meier analysis was performed using the surgical success criteria defined as intraocular pressure (IOP) ≤ 21 mmHg and ≥ 20% below baseline without the need for additional glaucoma surgery. RESULTS: BCVA at the time of diagnosis was 0.37 ± 0.48 logMAR, which changed to 0.51 ± 0.56 logMAR at the final follow-up (P = 0.08). Twenty-five percent of patients had BCVA equal to or better than 20/40 at the final visit. The mean refraction at baseline was -4.78 ± 5.87 diopters, which changed to less myopic refraction of -2.90 ± 3.83 diopters at the final visit. Optical correction was prescribed in 66% of eyes at the final visit. The average final stereopsis was 395.33 sec of arc. The linear regression model showed a significant association between the surgery success rate and final BCVA as well as stereoacuity (P-values: 0.04 and 0.03, respectively). Intraocular pressure (IOP) decreased significantly from 29.79 ± 7.67 mmHg at baseline to 16.13 ± 3.41 mmHg at the final follow-up (P = 0.001). CONCLUSION: Patients with PCG can achieve an acceptable visual acuity and stereoacuity, particularly in cases of timely intervention and close follow-up.

4.
Ophthalmic Genet ; 40(6): 549-552, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31743061

RESUMO

Background: Congenital disorders of glycosylation (CDG) are a group of hereditary multisystem disorders characterized by hypoglycosylation of glycoproteins. CDG type I results in a defect in the assembly of lipid-linkedoligosaccharides or their transfer onto nascent glycoproteins. Ocular abnormalities are common in CDG, but there is no report of detailed ophthalmologic evaluation in patients with CDG type Ig in the literature.Materials and Methods: Retrospective chart review of a case of CDG type Ig with novel variant in the associated gene: ALG12.Results: In addition to typical systemic findings of CDG, our case was found to have exotropia, bilateralcataracts, and retinitis pigmentosa with extinguished electroretinography in photopic and scotopic conditions.Conclusions: We hope to extend the understanding of ALG12-related CDG type Ig with these ophthalmologic observations.


Assuntos
Defeitos Congênitos da Glicosilação/patologia , Anormalidades do Olho/patologia , Defeitos Congênitos da Glicosilação/complicações , Anormalidades do Olho/etiologia , Anormalidades do Olho/cirurgia , Humanos , Lactente , Masculino , Prognóstico
5.
J Glaucoma ; 28(10): 865-870, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31368916

RESUMO

PRECIS: In this retrospective case series, both Baerveldt and Ahmed glaucoma drainage devices resulted in good long-term outcomes in eyes with pediatric glaucoma following cataract surgery (GFCS). BACKGROUND: The aim of this study was to describe the long-term safety and efficacy of primary glaucoma drainage device surgery in patients with pediatric GFCS. METHODS: We retrospectively identified 28 eyes of 28 patients with GFCS that underwent tube shunt surgery with the Ahmed Glaucoma Valve or Baerveldt Glaucoma Implant. The primary outcome measure was a surgical failure, defined as intraocular pressure (IOP) >21 mm Hg or not reduced by 20% below baseline on 2 consecutive follow-up visits after 3 months, IOP <5 mm Hg on 2 consecutive follow-up visits after 3 months, and reoperation for glaucoma. RESULTS: The mean duration between cataract removal and the diagnosis of glaucoma was 3.6±1.5 years. Kaplan-Meier survival curves indicated a mean time to failure of 41.9±2.1 months after drainage device surgery. The cumulative probability of failure at 1, 2, 3, and 4 years was 3.6%, 19%, 28%, and 28%. IOP was significantly decreased from 29.3±4.1 mm Hg preoperatively to 17.6±1.6 mm Hg at the final follow-up visit (P<0.001). The number of glaucoma medications at baseline was 3.1±0.6, which decreased to 2.1±0.7 at the final visit (P=0.001). CONCLUSIONS: Glaucoma drainage device surgery results in good long-term outcomes in patients with GFCS.


Assuntos
Extração de Catarata/efeitos adversos , Implantes para Drenagem de Glaucoma , Glaucoma de Ângulo Aberto/etiologia , Glaucoma de Ângulo Aberto/cirurgia , Pré-Escolar , Feminino , Seguimentos , Glaucoma de Ângulo Aberto/diagnóstico , Gonioscopia , Humanos , Lactente , Pressão Intraocular/fisiologia , Estimativa de Kaplan-Meier , Masculino , Implantação de Prótese , Estudos Retrospectivos , Tonometria Ocular , Resultado do Tratamento , Acuidade Visual/fisiologia
6.
J AAPOS ; 23(4): 222.e1-222.e5, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31251972

RESUMO

PURPOSE: To analyze the long-term results of ab externo trabeculotomy with a Harms trabeculotome at a single, tertiary care pediatric hospital. METHODS: The medical records of pediatric patients operated on between September 2006 and June 2018 were reviewed retrospectively. Kaplan-Meier analysis was performed, with success defined as postoperative intraocular pressure (IOP) of ≤21 mm Hg, >20% reduction from preoperative IOP, and no need for further glaucoma surgery. Risk factors for failure were identified using Cox proportional hazards ratio. RESULTS: A total of 63 eyes of 40 patients were included. The cumulative probability of success rate was 83% at 3 months, 76% at 6, 73% at 12, 72% at 18, and 65% at final visit. Presentation within 3 months of life was associated with a less favorable outcome. Thirty-five eyes (56%) underwent repeat trabeculotomy to treat a different area of the trabecular meshwork because of inadequately controlled IOP after the first session. Of those who needed another session of trabeculotomy, the final success rate was 60.2%. IOP significantly decreased from 29.79 ± 7.67 mm Hg at baseline to 16.13 ± 3.41 mm Hg by final follow-up (P = 0.001). Patients were followed for an average of 85.74 ± 32.95 months. IOP and success rates remained stable 18 months after surgery. CONCLUSIONS: In our patient cohort, ab externo trabeculotomy was associated with good long-term results. More extensive trabeculotomy (ie, more than one procedure) was associated with better long-term success rates.


Assuntos
Glaucoma/cirurgia , Pressão Intraocular/fisiologia , Malha Trabecular/cirurgia , Trabeculectomia/instrumentação , Acuidade Visual , Desenho de Equipamento , Feminino , Seguimentos , Glaucoma/congênito , Glaucoma/fisiopatologia , Humanos , Lactente , Masculino , Período Pós-Operatório , Estudos Retrospectivos , Fatores de Tempo , Tonometria Ocular , Resultado do Tratamento
7.
Int J Ophthalmol ; 12(5): 779-783, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31131236

RESUMO

AIM: To report a large series of children having Nd:YAG laser capsulotomy in the operating room using the lateral decubitus position. METHODS: Medical records of children who underwent Nd:YAG laser capsulotomy in the operating room at Ann & Robert H. Lurie Children's Hospital of Chicago between September 2008 and April 2017 were reviewed. Induction of general anesthesia and intubation was performed in the supine position after which the patient was placed in lateral decubitus position. The Nd:YAG laser capsulotomy was performed using a standard protocol. At the completion of the procedure, the patient was turned back into the supine position and extubated. RESULTS: This study included 87 eyes of 60 patients. Patient's age ranged from 1 to 18y (mean 6.4±4.1y). In most cases (84/87, 97%), the procedure was performed under general anesthesia. In all cases, good focus on the membrane was achieved, and the procedure was performed successfully. There were no intraoperative ocular or anesthesia-related complications. CONCLUSION: When performing Nd:YAG laser capsulotomy in the operating room, the lateral decubitus position allows an easy and safe approach without the risk of potentially devastating complications that have been associated with the previously described sitting and prone positions.

8.
J Ophthalmic Vis Res ; 14(1): 71-77, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30820290

RESUMO

Marfan syndrome is an autosomal dominant genetic connective tissue disorder that results from mutations in the fibrillin-1 gene located on chromosome band 15q15-21. Fibrillin, a glycoprotein, is widely expressed throughout the body and contributes to the elasticity and force-bearing capacity of connective tissue. In the eye, fibrillin is a key constituent of the ciliary zonules, which suspend the crystalline lens in place. The zonular defect leads to ectopia lentis, which is a hallmark of Marfan ocular abnormalities and occurs in 60% to 80% of cases. Other less common ocular features of Marfan syndrome are increased axial length, astigmatism, and flat cornea. Visual function in Marfan syndrome could be affected in several ways: ectopia lentis, refractive error, amblyopia, retinal detachment, cataract, and glaucoma. Management of a subluxated lens starts with the correction of refractive error with eyeglasses in mild cases. In more severe cases, especially when the lens bisects the pupil, complete correction of refractive error is impossible without removing the subluxated lens. The best method for visual rehabilitation after lens extraction is still debated. Aphakic Artisan lens implantation at the time of subluxated lens removal results in good visual outcomes with an acceptable safety profile. Studies with longer term follow-up and larger sample populations are needed to evaluate the safety of this procedure in patients with Marfan syndrome.

9.
Neuroophthalmology ; 44(5): 332-338, 2019 Jul 12.
Artigo em Inglês | MEDLINE | ID: mdl-33012924

RESUMO

Optic nerve aplasia (ONA) is a rare congenital anomaly with a limited number of published reports. A retrospective review was performed on seven patients with ONA seen during 2004-2017. Patient's ocular and extraocular manifestations, imaging findings, and clinical course were described. Magnetic resonance imaging (MRI) showed anomalies of the optic chiasm and tracts and other central nervous system involvement. In conclusion, in addition to thorough ophthalmic examinations, MRI is important in evaluating and diagnosing ONA. The patients need to be monitored for both ocular and extraocular concerns.

10.
J AAPOS ; 22(2): 92-96, 2018 04.
Artigo em Inglês | MEDLINE | ID: mdl-29526713

RESUMO

BACKGROUND: Previous studies of partially accommodative esotropia (PAET) have assessed factors requiring surgery and alignment outcomes. The purpose of the present study was to additionally evaluate stereoacuity in patients who required surgery for their nonaccommodative component. METHODS: The medical records of consecutive patients with PAET who underwent bilateral medial rectus recession from April 1990 to July 2010 to treat the nonaccommodative component were reviewed retrospectively. Preoperative data included visual acuity, stereoacuity, cycloplegic refraction, deviation at distance and near, and age at surgery. The primary outcomes were stereoacuity and alignment. RESULTS: A total of 84 patients were included. Stereopsis by the Titmus StereoTest was demonstrated in 51 (61%) by the final visit. The average follow-up time was 4.4 ± 2.8 years (range, 0.8-11.0 years). Fine stereopsis (100 arcsec or better) was appreciated in 29 patients (35%, 57% of those with stereopsis). Of those with residual esotropia, 11 (50%) demonstrated stereopsis, and 7 (32%) appreciated fine stereoacuity. No exotropic patient had stereopsis. There was a statistically significant correlation between age at time of surgery and stereopsis at 1 year (ρ = 0.233; P = 0.033) but not at the final visit (ρ = 0.106, P = 0.34). Of the 84 patients, 56 (67%) had a favorable alignment (within 10Δ of orthotropia) at the final visit; 22 (26%) had residual esotropia; and 6 (7%) had consecutive exotropia. CONCLUSIONS: In this subset of esotropic patients who required surgery for their nonaccommodative component, favorable sensory outcomes can be achieved. Furthermore, favorable stereoacuity can be found even when there is a residual esodeviation.


Assuntos
Acomodação Ocular/fisiologia , Percepção de Profundidade/fisiologia , Esotropia/cirurgia , Músculos Oculomotores/cirurgia , Procedimentos Cirúrgicos Oftalmológicos , Acuidade Visual/fisiologia , Adolescente , Criança , Pré-Escolar , Esotropia/fisiopatologia , Feminino , Seguimentos , Humanos , Lactente , Masculino , Músculos Oculomotores/fisiopatologia , Estudos Retrospectivos , Testes Visuais , Visão Binocular/fisiologia
11.
Ophthalmic Genet ; 39(3): 297-299, 2018 06.
Artigo em Inglês | MEDLINE | ID: mdl-29336629

RESUMO

BACKGROUND: Marfan syndrome (MFS) is a genetic disorder that affects multiple organ systems, including the eye. The most common ocular manifestations include ectopia lentis and retinal detachment. The current literature qualitatively cites that MFS patients have miotic or "poorly dilating" pupils. This study was the first to quantitatively assess pupillary function in MFS patients. MATERIALS AND METHODS: 57 eyes from 29 MFS patients, 36 eyes from 18 pediatric age- and gender-matched controls, and 44 eyes from 22 adult age-matched controls were measured in a clinic-based cross sectional study. Pupillometry data were measured in scotopic conditions using the handheld NeurOptics PLR-200™ Pupillometer (NeurOptics, Irvine, CA, USA). Data obtained with the pupillometer were maximum and minimum diameter, constriction percentage, latency, average and maximum constriction velocities, average dilation velocity, and 75% recovery time (T75). RESULTS: Pediatric patients with MFS had significantly slower average constriction velocity measurements (ß = 0.65, p = 0.0003), maximum constriction velocity measurements (ß = 0.51, p = 0.0150) and average dilation velocity measurements (ß = -0.19, p = 0.0029) compared to control patients. In the adult cohort, results indicated significantly slower average dilation velocity measurements (ß = -0.13, p = 0.0077) compared to controls. CONCLUSIONS: Our data highlight pupillary parameters within a population of MFS patients under scotopic conditions. Constriction and dilation velocities were slower in the pediatric MFS patients compared to age- and gender-matched controls, and dilation velocities were slower in the adult MFS patients compared to age-matched controls. These findings, for the first time, quantitatively demonstrated differences in pupillary function in patients with MFS.


Assuntos
Síndrome de Marfan/fisiopatologia , Pupila/fisiologia , Adolescente , Adulto , Idoso , Estudos de Casos e Controles , Criança , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Prognóstico , Adulto Jovem
12.
J AAPOS ; 22(1): 79-81.e1, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-29274373

RESUMO

Congenital lymphocytic choriomeningitis virus (LCMV) infection is associated with high mortality and morbidity. Although the number of cases reported in the literature has been increasing, it might still be clinically an underdiagnosed human fetal teratogen. We report 2 more cases of serologically proven congenital LCMV infection. One case presented with Aicardi-like syndrome features. Since congenital LCMV infection may mimic Aicardi syndrome, serologic testing should be considered in the workup of patients with Aicardi syndrome to rule out LCMV infection.


Assuntos
Esotropia/etiologia , Coriomeningite Linfocítica/complicações , Vírus da Coriomeningite Linfocítica , Transtornos da Visão/etiologia , Síndrome de Aicardi/diagnóstico , Pré-Escolar , Diagnóstico Diferencial , Feminino , Humanos , Lactente , Coriomeningite Linfocítica/congênito , Masculino , Gravidez , Complicações Infecciosas na Gravidez/virologia
14.
Ophthalmic Genet ; 39(1): 11-16, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-28569566

RESUMO

BACKGROUND: The prevalence of myopia is increasing worldwide. Previous studies have found a positive association between myopia, education, and near activities, while others have noted a negative association with outdoor exposure. This study reports refractive error and biometry in a founder population of European ancestry, the Hutterites, and discusses risk factors contributing to myopia. METHODS: Cross-sectional study, including complete eye exams with retinoscopy and biometry. RESULTS: 939 study participants, ages 6 to 89, were examined. Females were significantly more myopic than males (SE -0.87 ± 2.07 and -0.40 ± 1.49 in females and males, respectively, p < 0.0001). Males had significantly longer axial lengths. Females had steeper corneas. This is the first epidemiological report of refractive error among the Hutterites. DISCUSSION: As a genetically isolated population with a communal lifestyle, the Hutterites present a unique opportunity to study risk factors for myopia. Hutterite females are more myopic than males, a finding which has only been reported in a few other populations. Hutterite children complete compulsory education through the 8th grade, after which women and men assume gender-specific occupational tasks. Men often work outside on the farm, while women engage in more domestic activities inside. These occupational differences likely contribute to the increased myopia comparing females to males, and their uniform lifestyle reduces the impact of potential confounding factors, such as education and income. CONCLUSIONS: The Hutterites are more myopic than most other North American and European populations. Greater time spent doing near work and less time spent outdoors likely explain the increased myopia comparing females to males.


Assuntos
Efeito Fundador , Miopia/epidemiologia , População Branca/estatística & dados numéricos , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Comprimento Axial do Olho/patologia , Biometria , Criança , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Miopia/genética , Retinoscopia , Fatores de Risco , South Dakota/epidemiologia , População Branca/genética
15.
Am J Ophthalmol ; 177: 144-149, 2017 May.
Artigo em Inglês | MEDLINE | ID: mdl-28257833

RESUMO

PURPOSE: To report on the biometric findings of adults and children with Marfan syndrome (MFS) recruited from 2 annual National Marfan Foundation conferences (2012 and 2015). DESIGN: Cross-sectional study. METHODS: Subjects diagnosed with MFS by Ghent 2 nosology were included for analysis. Subjects were divided into "adults" (≥16 years of age) and "children" (5-15 years of age). Biometric data included values for refractive error, axial length (AL), corneal curvature, anterior chamber depth, lens thickness, and central corneal thickness. RESULTS: Of the 117 subjects evaluated, 74 (35 adults, 32 children, and 7 children <5 years of age) had a definite diagnosis of MFS and were included in the study. The AL was longer (25.25 ± 0.32 mm vs 24.24 ± 0.33 mm, P = .03) and the lens was thicker (3.94 ± 0.09 mm vs 3.62 ± 0.10 mm, P = .03) in adults. Both groups had flat corneas (average keratometry [Kmed] of 41.59 ± 0.35 diopters [D] in adults vs 40.89 ± 0.36 D in children, P = .17). A negative correlation was found between AL and Kmed (-0.33, P < .001). The corneas of patients with MFS with ectopia lentis (EL) were significantly flatter and with higher degree of corneal astigmatism compared to patients without EL (Kmed of 40.68 ± 0.31 D vs 41.75 ± 0.28 D, P < .01 and corneal astigmatism of 1.68 ± 0.16 D vs 1.13 ± 0.14 D, P = .01). CONCLUSIONS: Children with established MFS have flat corneas at least to the same degree as adults. Corneas of patients with MFS with EL are flatter and have a higher degree of corneal astigmatism. We strongly suggest that corneal parameters should be measured if MFS is suspected, especially in children that may not yet have developed EL.


Assuntos
Comprimento Axial do Olho/patologia , Biometria/métodos , Córnea/patologia , Doenças da Córnea/diagnóstico , Topografia da Córnea/métodos , Síndrome de Marfan/complicações , Refração Ocular/fisiologia , Adolescente , Chicago/epidemiologia , Criança , Pré-Escolar , Congressos como Assunto , Doenças da Córnea/epidemiologia , Doenças da Córnea/etiologia , Estudos Transversais , Feminino , Humanos , Incidência , Masculino , Acuidade Visual/fisiologia
16.
Ophthalmic Genet ; 38(1): 34-38, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28095089

RESUMO

PURPOSE: To report the distribution of macular and optic nerve topography in the eyes of individuals with Marfan syndrome aged 8-56 years using spectral domain optical coherence tomography (SD-OCT). METHODS: Thirty-three patients with Marfan syndrome underwent a full eye examination including slit-lamp biomicroscopy, indirect ophthalmoscopy, and axial length measurement; and SD-OCT measurements of the retinal nerve fiber layer (RNFL) and macular thickness. RESULTS: For patients between the ages of 8 and 12 years, the average RNFL thickness is 98 ± 9 µm, the vertical cup to disc (C:D) ratio is 0.50 ± 0.10, the central subfield thickness (CST) is 274 ± 38 µm, and the macular volume is 10.3 ± 0.6 mm3. For patients between the ages of 13 and 17 years, the average RNFL is 86 ± 16 µm, the vertical C:D ratio is 0.35 ± 0.20, the CST is 259 ± 15 µm, and the macular volume is 10.1 ± 0.5 mm3. For patients 18 years or older, the average RNFL is 89 ± 12 µm, the vertical C:D ratio is 0.46 ± 0.18, the CST is 262 ± 20 µm, and the macular volume is 10.2 ± 0.4 mm3. When the average RNFL data are compared to a normative, age-adjusted database, 6 of 33 (18%) were thinner than the 5% limit. CONCLUSION: This study reports the distribution of SD-OCT data for patients with Marfan syndrome. Compared to a normative database, 18% of eyes with Marfan syndrome had RNFL thickness < 5% of the population.


Assuntos
Macula Lutea/patologia , Síndrome de Marfan/diagnóstico , Fibras Nervosas/patologia , Células Ganglionares da Retina/patologia , Tomografia de Coerência Óptica , Adolescente , Adulto , Comprimento Axial do Olho , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Lâmpada de Fenda
17.
Ophthalmology ; 123(9 Suppl): S32-3, 2016 09.
Artigo em Inglês | MEDLINE | ID: mdl-27550001

RESUMO

The selection of directors of the American Board of Ophthalmology (ABO) initially was carried out by the 3 founding organizations of the ABO: the American Medical Association, the American Ophthalmological Society, and the American Academy of Ophthalmology and Otolaryngology. Since 1982, the ABO has chosen its own directors and, in 2001, began adding public directors. It is only in recent years that women comprise an increasing proportion of ABO directors.


Assuntos
Oftalmologia/história , Diretores Médicos/história , Conselhos de Especialidade Profissional/história , Feminino , História do Século XX , História do Século XXI , Humanos , Masculino , Sociedades Médicas/história , Estados Unidos
18.
Ophthalmic Surg Lasers Imaging Retina ; 46(9): 936-41, 2015 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-26469233

RESUMO

BACKGROUND AND OBJECTIVE: To study the prevalence of peripheral retinal disease in patients with Marfan Syndrome (MFS). PATIENTS AND METHODS: In this observational, cross-sectional case series, patients with MFS were recruited by the Marfan Eye Consortium of Chicago during the National Marfan Foundation's annual conference. Patients underwent a fully dilated exam by vitreoretinal specialists in addition to ultra-widefield fundus photography using a scanning laser ophthalmoscope (Optos 200Tx; Optos PLC, Dunfermline, Scotland, United Kingdom). RESULTS: Clinical examination revealed posterior segment pathology in 18% of eyes with increased incidence to 70% in patients with a subluxed lens. In six out of 10 subjects in whom the clinical exam was suboptimal (young age, small pupil, and limited cooperation), the Optos provided a superior view of the peripheral retina compared to clinical exam alone. CONCLUSION: Clinical exam of MFS patients revealed similar posterior segment pathology as noted in previous literature, with improved detection of peripheral retinal disease with the use of ultra-widefield imaging.


Assuntos
Síndrome de Marfan/complicações , Doenças Retinianas/etiologia , Adolescente , Adulto , Criança , Pré-Escolar , Estudos Transversais , Humanos , Subluxação do Cristalino/diagnóstico , Subluxação do Cristalino/etiologia , Pessoa de Meia-Idade , Oftalmoscopia , Fotografação , Prevalência , Descolamento Retiniano/diagnóstico , Descolamento Retiniano/etiologia , Doenças Retinianas/diagnóstico , Doenças Retinianas/epidemiologia
19.
PLoS One ; 10(9): e0138366, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26379276

RESUMO

Retinoblastoma is the most common intraocular tumor in children. Current management includes broad-based treatments such as chemotherapy, enucleation, laser therapy, or cryotherapy. However, therapies that target specific pathways important for retinoblastoma progression could provide valuable alternatives for treatment. MicroRNAs are short, noncoding RNA transcripts that can regulate the expression of target genes, and their aberrant expression often facilitates disease. The identification of post-transcriptional events that occur after the initiating genetic lesions could further define the rapidly aggressive growth displayed by retinoblastoma tumors. In this study, we used two phenotypically different retinoblastoma cell lines to elucidate the roles of miRNA-31 and miRNA-200a in tumor proliferation. Our approach confirmed that miRNAs-31 and -200a expression is significantly reduced in human retinoblastomas. Moreover, overexpression of these two miRNAs restricts the expansion of a highly proliferative cell line (Y79), but does not restrict the growth rate of a less aggressive cell line (Weri1). Gene expression profiling of miRNA-31 and/or miRNA-200a-overexpressing cells identified differentially expressed mRNAs associated with the divergent response of the two cell lines. This work has the potential to enhance the development of targeted therapeutic approaches for retinoblastoma and improve the efficacy of treatment.


Assuntos
Proliferação de Células/genética , MicroRNAs/genética , Neoplasias da Retina/genética , Retinoblastoma/genética , Linhagem Celular Tumoral , Perfilação da Expressão Gênica/métodos , Regulação Neoplásica da Expressão Gênica/genética , Humanos
20.
JAMA Ophthalmol ; 133(1): 11-6, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25211190

RESUMO

IMPORTANCE: Children with a history of amblyopia, even if resolved, exhibit impaired visual-auditory integration and perceive speech differently. OBJECTIVE: To determine whether a history of amblyopia is associated with abnormal visual-auditory speech integration. DESIGN, SETTING, AND PARTICIPANTS: Retrospective observational study at an academic pediatric ophthalmologic clinic with an average of 4 years of follow-up. Participants were at least 3 years of age and without any history of neurologic or hearing disorders. Of 39 children originally in our study, 6 refused to participate. The remaining 33 participants completed the study. Twenty-four participants (mean [SD] age, 7.0 [1.5] years) had a history of amblyopia in 1 eye, with a visual acuity of at least 20/20 in the nonamblyopic eye. Nine controls (mean [SD] age, 8.0 [3.4] years) were recruited from referrals for visually insignificant etiologies or through preschool-screening eye examinations; all had 20/20 in both eyes. EXPOSURES: Participants were presented with a video demonstrating the McGurk effect (ie, a stimulus presenting an audio track playing the sound /pa/ and a separate video track of a person articulating /ka/). Normal visual-auditory integration produces the perception of hearing a fusion sound /ta/. Participants were asked to report which sound was perceived, /ka/, /pa/, or /ta/. MAIN OUTCOME AND MEASURE: Prevalence of perception of the fusion /ta/ sound. Prior to the study, amblyopic children were hypothesized to less frequently perceive /ta/. RESULTS: The McGurk effect was perceived by 11 of the 24 participants with amblyopia (45.8%) and all 9 controls (100%) (adjusted odds ratio, 22.3 [95% CI, 1.2-426.0]; P = .005). The McGurk effect was perceived by 100% of participants with amblyopia that was resolved by 5 years of age and by 100% of participants whose onset at amblyopia developed at or after 5 years of age. However, only 18.8% of participants with amblyopia that was unresolved by 5 years of age (n = 16) perceived the McGurk effect (adjusted odds ratio, 27.0 [95% CI, 1.1-654.0]; P = .02). CONCLUSIONS AND RELEVANCE: This pilot study suggests that children with a history of amblyopia have impaired visual-auditory speech perception. Early childhood appears to serve as an approximate time point for the development of successful visual-auditory fusion, by which time amblyopia must have either resolved or begun. Interventions to resolve amblyopia may not only influence visual acuity but may also influence the perception of sound.


Assuntos
Ambliopia/fisiopatologia , Sinais (Psicologia) , Relações Mãe-Filho/psicologia , Mães/psicologia , Processamento Espacial/fisiologia , Percepção da Fala/fisiologia , Percepção Visual/fisiologia , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Projetos Piloto , Estudos Retrospectivos , Visão Binocular/fisiologia , Acuidade Visual/fisiologia
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