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PURPOSE: Bilateral pediatric cataract (BPC) is one of the most common causes of childhood visual impairment and blindness worldwide. A significant percentage of pediatric cataracts are caused by genetic alterations. We aim to characterize the set of genes and variants that cause BPC in the Israeli and Palestinian populations and to assess genotype-phenotype correlation. METHODS: Retrospective study in a multidisciplinary center for visual impairment, located in a tertiary medical center. Medical charts of families who underwent genetic counseling because of BPC in a family member were reviewed. Clinical characteristics and genetic tests results were obtained from medical records of affected subjects. RESULTS: Twenty-two families (47 patients) underwent genetic counseling and completed genetic testing. Causative variants were identified in 18/22 (81.8%) of the families, including 3 novel variants. Genetic testing used included mainly panel for congenital cataracts and whole exome sequencing. Eleven families performed genetic testing with the intention of future pregnancy planning. Main causative genes identified were crystalline genes followed by transcription factor genes. BCOR gene variants were associated with persistent fetal vasculature (PFV) cataract in two of three families. CONCLUSIONS: Combined molecular techniques are useful in identifying variants causing pediatric cataracts and showed a high detection rate in our population. BCOR gene variants might be associated with PFV type of cataracts. The study of pathogenic variants may aid in family planning and prevention of pediatric cataracts in future pregnancies. Additionally, in certain cases, it assists in diagnosing non-suspected syndromic types of pediatric cataracts.
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PURPOSE: To compare the accuracy of the Barrett II universal (BU II) formula, Hoffer-Q, and SRKT formulae following lensectomy and IOL implantation in a large pediatric cohort. METHODS: Retrospective study of children who underwent lensectomy and IOL implantation between 2015 and 2023 at Hadassah-Hebrew University Medical Center, Jerusalem, Israel. RESULTS: One hundred and fifty-one eyes of 104 children aged 6.0 ± 3.9 years were included. The mean prediction error (PE) was - 0.08 ± 1.54 diopters (D) with BU II, 0.24 ± 1.46 D with Hoffer-Q, and 0.71 ± 1.92 D with SRKT (P = 0.10). In eyes with axial length (AL) < 22 mm, BU II and Hoffer-Q had a smaller PE than SRKT (P = 0.024). In eyes with AL ≥ 22 mm, BU II had a smaller PE than Hoffer-Q (P = 0.048). In children 24 months or older at surgery, BU II had a smaller PE than SRKT and Hoffer-Q (P = 0.012). However, in younger children, no difference was found between the formulae (P = 0.61). For mean k-values ≥ 44.5 D, BU II and Hoffer-Q had a smaller PE than SRKT (P = 0.002). An absolute prediction error < 1.0 D was obtained with BU II in 66% of eyes and SRKT in 35% (P = 0.01). CONCLUSIONS: The BU II formula performed well with a small prediction error. No significant difference in PE was detected overall between the formulae. However, only BU II demonstrated a stable prediction error at varying axial lengths, K-readings, and ages. As the biometric parameters of the developing eye change with growth, the BU II formula offers a reliable and stable option for pediatric IOL calculation.
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Biometría , Implantación de Lentes Intraoculares , Refracción Ocular , Agudeza Visual , Humanos , Estudios Retrospectivos , Masculino , Femenino , Niño , Preescolar , Refracción Ocular/fisiología , Implantación de Lentes Intraoculares/métodos , Biometría/métodos , Lentes Intraoculares , Errores de Refracción/fisiopatología , Errores de Refracción/diagnóstico , Estudios de Seguimiento , Lactante , Longitud Axial del Ojo/patología , Adolescente , Reproducibilidad de los ResultadosRESUMEN
PURPOSE: To report genetic and clinical findings in a case series of 10 patients from eight unrelated families diagnosed with Senior-Løken syndrome. METHODS: A retrospective study of patients with Senior-Løken syndrome. Data collected included clinical findings electroretinography and ocular imaging. Genetic analysis was based on molecular inversion probes, whole-exome sequencing (WES), and Sanger sequencing. RESULTS: All patients who underwent electrophysiology (8/10) had widespread photoreceptor degeneration. Genetic analysis revealed two mutations in NPHP1, two mutations in NPHP4, and two mutations in IQCB1 (NPHP5). Five of the six mutations identified in the current study were found in a single family each in our cohort. The IQCB1-p.R461* mutation has been identified in 3 families. Patients harboring mutations in IQCB1 were diagnosed with Leber congenital amaurosis, while patients with NPHP4 and NPHP1 mutations showed early and sector retinitis pigmentosa, respectively. Full-field electroretinography was extinct for 6 of 10 patients, moderately decreased for two, and unavailable for another 2 subjects. Renal involvement was evident in 7/10 patients at the time of diagnosis. Kidney function was normal (based on serum creatinine) in patients younger than 10 years. Mutations in IQCB1 were associated with high hypermetropia, whereas mutations in NPHP4 were associated with high myopia. CONCLUSION: Patients presenting with infantile inherited retinal degeneration are not universally screened for renal dysfunction. Modern genetic tests can provide molecular diagnosis at an early age and therefore facilitate early diagnosis of renal disease with recommended periodic screening beyond childhood and family planning.
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Proteínas Adaptadoras Transductoras de Señales/genética , Proteínas de Unión a Calmodulina/genética , Ciliopatías/genética , Proteínas del Citoesqueleto/genética , Enfermedades Renales Quísticas/genética , Amaurosis Congénita de Leber/genética , Mutación , Atrofias Ópticas Hereditarias/genética , Proteínas/genética , Adolescente , Niño , Preescolar , Ciliopatías/diagnóstico , Ciliopatías/fisiopatología , Pruebas de Percepción de Colores , Análisis Mutacional de ADN , Electrorretinografía , Femenino , Humanos , Lactante , Enfermedades Renales Quísticas/diagnóstico , Enfermedades Renales Quísticas/fisiopatología , Amaurosis Congénita de Leber/diagnóstico , Amaurosis Congénita de Leber/fisiopatología , Masculino , Persona de Mediana Edad , Técnicas de Diagnóstico Molecular , Atrofias Ópticas Hereditarias/diagnóstico , Atrofias Ópticas Hereditarias/fisiopatología , Linaje , Fenotipo , Retina/fisiopatología , Estudios Retrospectivos , Agudeza Visual/fisiología , Pruebas del Campo Visual , Secuenciación del Exoma , Adulto JovenRESUMEN
INTRODUCTION: Understanding the primary, secondary and tertiary actions of the vertical recti and oblique muscles is important in the diagnosis of various types of strabismus (superior oblique palsy, A- and V-patterns). Unfortunately, learning these actions can be very challenging. We designed a visual memory tool, and assessed its usefulness for medical students. METHODS: Medical students undergoing their rotation in ophthalmology were taught the actions of the extraocular muscles either without the memory aid (control group) or with it (test group). The students were surveyed one week and one month later to determine their ability to recall the muscle actions and asked to subjectively rate the usefulness of the memory aid. RESULTS: Approximately 40% of the test group used the memory tool. Eighty-seven percent of the respondents recommended that the memory aid be taught in the future. Overall, there was no significant difference in the ability to recall the actions of the muscles between the control and test groups. However, those students who found the memory aid helpful had significantly better recall than those who did not. CONCLUSION: The memory aid may be useful to a significant proportion of students.
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Aprendizaje por Asociación , Educación de Pregrado en Medicina , Músculos Oculomotores/fisiopatología , Oftalmología/educación , Estrabismo/fisiopatología , Humanos , Pruebas de Memoria y Aprendizaje , Recuerdo Mental , Estrabismo/diagnóstico , Estudiantes de MedicinaRESUMEN
OBJECTIVE: To present an established practice protocol for safe and effective hospital-setting ophthalmic practice during the coronavirus disease 2019 (COVID-19) pandemic. METHODS AND ANALYSIS: Literature was reviewed to identify articles relevant to COVID-19 pandemic and ophthalmology. The following keywords were used: COVID-19, SARS-CoV-2 and telemedicine, combined with eye, ophthalmology, conjunctivitis and tears. Data were extracted from the identified manuscripts and discussed among subspecialists to obtain consensus evidence-based practice. RESULTS: A protocol for ophthalmic practice in the era of COVID-19 pandemic was established. The protocol covered patient screening, clinic flow, required personal protective equipment and modifications of ophthalmic equipment for improved safety. CONCLUSION: Important literature emerged with respect to the practice of ophthalmology in the era of COVID-19. An evidence-based ophthalmic practice protocol was established and should be modified in the future to accommodate new insights on the COVID-19 pandemic.
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PURPOSE: To evaluate the Bernell Evaluation of Stereopsis Test (BEST) (Bernell Corporation, Mishawaka, IN), a new lenticular technology and filter-free test to measure stereopsis in children, and compare it to the Randot Stereotest (Randot) (Stereo Optical, Inc., Chicago, IL). METHODS: This was a retrospective review of the medical records of children examined at the Center for Pediatric Ophthalmology at Hadassah-Hebrew University Medical Center from July to November 2018. All children were evaluated with the Randot and BEST in a random order. RESULTS: The study included 100 children (53% female, 64% orthophoric) with a mean age of 8.52 ± 3.18 years (range: 3.3 to 17.8 years) and mean best corrected visual acuity of 0.178 ± 0.16 logMAR (range: 0 to 0.7 logMAR). The mean BEST stereoacuity was 1.772 ± 0.27 log seconds of arc (arcsec), whereas the mean Randot stereo-acuity was 1.778 ± 0.39 log arcsec (P = .835). The Bland- Altman analysis revealed an overall bias of 0.0073 log arcsec (95% confidence interval: 0.04219 to 0.05679 log arcsec), with limits of agreement of -0.4816 to 0.4962 log arcsec (0.3299 to 3.1347 arcsec). A significant proportional bias was noted because the difference between the tests was significantly larger in higher log arcsec values (t = 5.566, P < .001). Age, gender, strabismus, and visual acuity did not affect the differences between the stereoacuity tests (P > .05). Both tests were influenced by strabismus but not monocular amblyopia. CONCLUSIONS: BEST stereoacuity measurements were comparable to those of the Randot, with no significant difference in crude values, minimal bias, and narrow limits of agreement. A larger, clinically insignificant variability between tests was noted with lower stereoacuity values, because children achieved better scores with the BEST. The BEST may be a valuable tool in the arsenal of the ophthalmologist. [J Pediatr Ophthalmol Strabismus. 2020;57(2):129-135.].
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Percepción de Profundidad/fisiología , Pruebas de Visión/métodos , Adolescente , Niño , Preescolar , Estudios de Cohortes , Femenino , Humanos , Masculino , Examen Físico , Proyectos Piloto , Estudios Retrospectivos , Visión Binocular/fisiología , Agudeza Visual/fisiologíaRESUMEN
Few anecdotal reports have documented new onset and progression of myelination of the retinal nerve fiber layer. The authors report the unusual onset and progression of acquired myelination of the retinal nerve fiber layer in two children, following the diagnosis of presumed idiopathic intracranial hypertension. The nosologic relationship between myelination of the retinal nerve fiber layer and idiopathic intracranial hypertension is unclear and requires elucidation by further studies. [J Pediatr Ophthalmol Strabismus. 2019;56:e57-e59.].
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Fibras Nerviosas Mielínicas/patología , Seudotumor Cerebral/complicaciones , Enfermedades de la Retina/diagnóstico , Células Ganglionares de la Retina/patología , Niño , Humanos , Lactante , Masculino , Nervio Óptico/patología , Seudotumor Cerebral/diagnóstico , Enfermedades de la Retina/etiología , Tomografía de Coherencia ÓpticaRESUMEN
The primary cilium is a key organelle in numerous physiological and developmental processes. Genetic defects in the formation of this non-motile structure, in its maintenance and function, underlie a wide array of ciliopathies in human, including craniofacial, brain and heart malformations, and retinal and hearing defects. We used exome sequencing to study the molecular basis of disease in an 11-year-old female patient who suffered from growth retardation, global developmental delay with absent speech acquisition, agenesis of corpus callosum and paucity of white matter, sensorineural deafness, retinitis pigmentosa, vertebral anomalies, patent ductus arteriosus, and facial dysmorphism reminiscent of STAR syndrome, a suspected ciliopathy. A homozygous variant, c.870_871del, was identified in the CDK10 gene, predicted to cause a frameshift, p.Trp291Alafs*18, in the cyclin-dependent kinase 10 protein. CDK10 mRNAs were detected in patient cells and do not seem to undergo non-sense mediated decay. CDK10 is the binding partner of Cyclin M (CycM) and CDK10/CycM protein kinase regulates ciliogenesis and primary cilium elongation. Notably, CycM gene is mutated in patients with STAR syndrome. Following incubation, the patient cells appeared less elongated and more densely populated than the control cells suggesting that the CDK10 mutation affects the cytoskeleton. Upon starvation and staining with acetylated-tubulin, γ-tubulin, and Arl13b, the patient cells exhibited fewer and shorter cilia than control cells. These findings underscore the importance of CDK10 for the regulation of ciliogenesis. CDK10 defect is likely associated with a new form of ciliopathy phenotype; additional patients may further validate this association.
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Agenesia del Cuerpo Calloso/genética , Quinasas Ciclina-Dependientes , Sordera/genética , Estudios de Asociación Genética , Homocigoto , Mutación , Displasia Retiniana/genética , Agenesia del Cuerpo Calloso/diagnóstico , Alelos , Encéfalo/anomalías , Encéfalo/diagnóstico por imagen , Niño , Análisis Mutacional de ADN , Sordera/diagnóstico , Exoma , Facies , Femenino , Expresión Génica , Humanos , Linaje , Fenotipo , ARN Mensajero/genética , Displasia Retiniana/diagnósticoRESUMEN
The Accreditation Council for Graduate Medical Education (ACGME) requires US residency programs to assess ophthalmology residents for competency in 6 core areas. Ophthalmic surgical skills are currently part of the ACGME "Patient Care" competency, although some have advocated for a seventh competency, "Surgical Skills." The Ophthalmology Surgical Competency Assessment Rubric for Strabismus Surgery in Resident Training ( OSCAR: Strabismus) tool was designed to aid in the assessment of surgical skills using procedure specific behavioral anchors. The present study evaluated inter-rater agreement of the OSCAR: Strabismus tool in the assessment of resident performance. OSCAR: Strabismus evaluations of resident surgical strabismus cases were performed by a multinational group of faculty strabismus surgeons. Cronbach α statistical analysis of the completed evaluations revealed high inter-rater agreement, indicating the OSCAR: Strabismus is a reliable tool to facilitate assessment of resident strabismus surgical skills.
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Competencia Clínica/normas , Educación de Postgrado en Medicina/normas , Evaluación Educacional/normas , Internado y Residencia , Procedimientos Quirúrgicos Oftalmológicos/educación , Oftalmología/educación , Estrabismo/cirugía , Humanos , Músculos Oculomotores/cirugíaRESUMEN
PURPOSE: It is known that both human conjunctival fibroblasts (HCF) and corneal epithelial (HCE) cells contribute to the inflammatory process in the ocular surface by releasing inflammatory cytokines. In addition, nitric oxide (NO) has an important role in inflammatory responses in the ocular surface. In the present study, we aimed to characterize the capacity of these cells to release nitric oxide in response to cytokines and Lipopolysaccharide (LPS), and show that Alpha-linoleic acid (ALA) inhibits these responses. METHODS: HCF, HCE cells, peripheral blood mononuclear cells (PBMCs) and co-culture of HCF and PBMC were treated with different combinations of inflammatory inducers, including interleukin)IL- (6, tumor necrosis factors (TNF)-α, interferon (IFN)- γ and IL-1ß and LPS. Nitrite levels were measured in cell supernatants with and without ALA by the Griess reaction test at 24, 48 and 72 h respectively. Expression of nitric oxide synthase 2 (NOS-2) was evaluated by real-time PCR. RESULTS: All cytokine combinations had an inducible effect on nitrite secretion in HCF, PBMC and co-cultured PBMC and HCF, but not in HCE cells. Treatment with a combination of IL-6, LPS, TNF-α, IFN- γ and IL-1ß induced the highest nitrite secretion (2.91 fold, P < 0.01) as compared to cells incubated in medium alone. nitrite secretion was reduced by 38.9 % (P < 0.05) after treatment with ALA alone. Co-culturing PBMC with HCF with and without ALA treatment demonstrated similar results in nitrite level as,compared to PBMC alone. In addition, ALA significantly decreased NOS-2 expression in HCF by 48.9 % (P < 0. 001) after 72 h. CONCLUSIONS: The decrease in nitrite release and inhibition of NOS-2 expression indicate that ALA may have an anti-inflammatory effect both on HCF and on peripheral immune cells. This indicates that ALA may serve as a potent anti-inflammatory agent in ocular surface inflammation.
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Hindbrain malformations with predominant cerebellar involvement have many causes including chromosomal disorders, specific genetic syndromes, and prenatal disruptions. The combination of a hindbrain malformation and myoclonic epilepsy is rare. Using exome sequencing in a consanguineous family, we identified a homozygous genomic deletion of 1770 bp within the INPP4A gene in a patient with myoclonic epilepsy, microcephaly, and atrophy of the inferior vermis and cerebellum. INPP4A participates in the excitatory glutamate signaling pathway and is essential for the degradation of phosphatidylinositol (3,4)-bisphosphate. Glutamatergic signaling is important for hindbrain development and is implicated in the pathogenesis of epilepsy, as well as excitotoxic cell death. Indeed, excessive glutamatergic stimulation was previously reported in INPP4A knockout mice. Our data adds a new etiology to the spectrum of hindbrain malformations in human, and when presented with myoclonic epilepsy may lead to the clinical suspicion of INPP4A defect. The present report further underscores the importance of phosphoinositides for the development of the inferior cerebellum and vermis.
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Epilepsias Mioclónicas/complicaciones , Malformaciones del Sistema Nervioso/complicaciones , Malformaciones del Sistema Nervioso/genética , Malformaciones del Sistema Nervioso/fisiopatología , Monoéster Fosfórico Hidrolasas/genética , Rombencéfalo/anomalías , Eliminación de Secuencia , Consanguinidad , Humanos , Masculino , Rombencéfalo/fisiopatologíaRESUMEN
BACKGROUND: Toll-like receptors (TLRs) are recognized as important contributors to the initiation and modulation of the inflammatory response in the eye. This study investigated the precise expression patterns and functionality of TLRs in human corneal epithelial cells (HCE) and in conjunctival fibroblasts (HCF). METHODS: The cell surface expression of TLRs 2-4, TLR7 and TLR9 in HCE and HCF was examined by flow cytometry with or without stimulation with lipopolysaccharide (LPS) or polyinosinic:polycytidylic acid (poly I:C). The mRNA expression of the TLRs was determined by real-time PCR. The protein content levels of interleukin (IL)-6, IL-8, IL-1ß and tumor necrosis factor-α (TNF-α) were measured in HCE and HCF using multiplex fluorescent bead immunoassay (FBI). RESULTS: The surface expression of TLR3 and TLR4 was detected on both HCE and HCF. Following incubation with LPS, the percentage of HCE cells staining for TLR4 decreased from 10.18% to 0.62% (P < 0.001). Incubation with poly I:C lowered the percentage of HCE cells positive for TLR3 from 10.44% to 2.84% (P < 0.001). The mRNA expression of TLRs2, 4, 7 and 9 was detected in HCE only. Activation of HCE with LPS complex elicited protein secretion up to 4.51 ± 0.85-fold higher levels of IL-6 (P < 0.05), 2.5 ± 0.36-fold IL-8 (P > 0.05), 4.35 ± 1.12-fold IL-1ß (P > 0.05) and 29.35 ± 2.3-fold TNFα (P < 0.05) compared to cells incubated in medium. CONCLUSIONS: HCF and HCE both express TLRs that respond to specific ligands by increasing cytokine expression. Following activation, the surface expression of TLR3 and TLR4 on HCE is decreased, thus creating a negative feedback loop, mitigating the effect of TLR activation.
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PURPOSE: To evaluate the prevalence of refractive errors in different subtypes of oculocutaneous albinism, and to see if there is any correlation between refractive errors and final visual outcome in this population. PATIENTS/METHODS: This is a retrospective study of 132 albino patients, ranging in age from 0.5 to 35 years. They were divided into four subtypes: OCA1A, OCA1B and OCA1C, and OCA2. Refractive errors were evaluated objectively by cycloplegic refraction and subjectively in cooperative patients. Best corrected visual acuity was assessed binocularly. Refractive errors were divided into three groups--hypermetropia, myopia and astigmatism--to avoid the use of spherical equivalent. RESULTS: Refractive errors were mainly astigmatism and hypermetropia. The OCA1A group showed high hypermetropia (≥ 5 dioptres) in 43.4% of patients, reaching significantly higher levels than in other subgroups (p=0.007). Mean visual acuity in logMAR was: OCA1A=0.81, OCA1B=0.64, OCA1C=0.61 and OCA2=0.48. Astigmatism averaged 2.1 dioptres (consistently with-the-rule), and it was homogeneously distributed between all subgroups (53%). CONCLUSIONS: The poorest visual acuity was found in those with OCA1A, which was associated with the highest rate of high hypermetropia (statistically significant different from other subgroups). Astigmatism was the most common visually significant refractive error across all subtypes of albinism. These results may help to clarify the prevalence of refractive errors in albino patients and aid the prediction of visual outcome in this heterogeneous population.
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Albinismo Oculocutáneo/complicaciones , Refracción Ocular , Errores de Refracción/etiología , Agudeza Visual , Adolescente , Adulto , Albinismo Oculocutáneo/fisiopatología , Niño , Preescolar , Progresión de la Enfermedad , Femenino , Humanos , Lactante , Israel/epidemiología , Masculino , Prevalencia , Pronóstico , Errores de Refracción/epidemiología , Errores de Refracción/fisiopatología , Estudios Retrospectivos , Adulto JovenAsunto(s)
Anomalías Múltiples/patología , Coartación Aórtica/complicaciones , Coartación Aórtica/patología , Enfermedad de Moyamoya/complicaciones , Enfermedad de Moyamoya/patología , Malformaciones Vasculares/complicaciones , Malformaciones Vasculares/patología , Anomalías Múltiples/diagnóstico por imagen , Adulto , Angiografía , Coartación Aórtica/diagnóstico por imagen , Encéfalo/patología , Femenino , Humanos , Recién Nacido , Imagen por Resonancia Magnética , Masculino , Enfermedad de Moyamoya/diagnóstico por imagen , Fenotipo , Embarazo , Síndrome , Malformaciones Vasculares/diagnóstico por imagenRESUMEN
The objective of this study was to characterize and differentiate vascular patterns of choroidal melanomas and choroidal metastases by color flow mapping (CFM). We conducted a retrospective chart study on CFM findings in 18 patients with choroidal melanomas and 10 patients with choroidal metastases. We evaluated the possibilities of applying CFM to identify hypo- versus hyper-vascularity within the tumor, a central 'dominant vessel', and Doppler signals in the tumor's center and/or periphery. CFM demonstrated hypervascular patterns in 33% melanomas and 100% metastases (p<0.0001). CFM identified a central dominant vessel in 94% melanomas and 0/10 metastases (p<0.0001). Vascularity occupied the center of 11/18 melanomas and 0/10 metastases (p<0.0001), the periphery of 2/18 melanomas and 9/10 metastases (p<0.0001), and equally occupied the tumor's center and periphery of 5/18 melanomas and 1/10 metastases (p<0.0001). Based on our findings, we conclude that CFM was capable of non-invasively demonstrating different and distinct vascular patterns in malignant choroidal melanomas and choroidal metastases.
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Neoplasias de la Coroides/diagnóstico por imagen , Neoplasias de la Coroides/secundario , Melanoma/diagnóstico por imagen , Melanoma/secundario , Ultrasonografía Doppler en Color , Neoplasias de la Úvea/diagnóstico por imagen , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Diagnóstico Diferencial , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Neoplasias de la Úvea/patología , Adulto JovenRESUMEN
PURPOSE: To evaluate postoperative alignment after strabismus surgery in children with Down syndrome. METHODS: A retrospective analysis of 15 consecutive cases of children with Down syndrome who underwent surgery for strabismus between 1990 and 2008. Follow-up was at least 6 months (range, 0.5-16 years). RESULTS: All children underwent surgery for esotropia. The mean preoperative angle of deviation was 37.6Delta. Of the 15 children, 14 underwent surgical procedure for strabismus according to standard surgical tables. Surgical success (within 10Delta of orthophoria) was achieved in 12 of 14 children (85.7%). The remaining 2 children (14.3%) had residual esotropia. CONCLUSIONS: Good surgical motor outcomes were achieved in children with Down syndrome after strabismus surgery following standard surgical tables. The tendency toward overcorrection reported in children with central nervous system disorders was not observed in our study. We suggest use of the same surgical calculations as used in children with normal development when treating children with Down syndrome and esotropia.
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Síndrome de Down/complicaciones , Esotropía/cirugía , Músculos Oculomotores/cirugía , Procedimientos Quirúrgicos Oftalmológicos , Adolescente , Niño , Preescolar , Esotropía/fisiopatología , Estudios de Seguimiento , Humanos , Lactante , Músculos Oculomotores/fisiopatología , Refracción Ocular/fisiología , Estudios Retrospectivos , Resultado del Tratamiento , Visión Binocular/fisiología , Adulto JovenRESUMEN
Pilomatrixoma is an uncommon benign neoplasm that originates from the matrix of the hair root. It occurs more frequently in the head and neck region of children and adolescents, often involving the eyelid or eyebrow. Pilomatrixoma is often misdiagnosed clinically and the correct diagnosis can be established only after excision and histological examination. Pathologic diagnosis of pilomatrixoma is based on the finding of large masses of shadow cells, combined with basophilic cells, inflammation, foreign body giant cells, calcification, and ossification. We report 16 cases of eyelid pilomatrixoma that were treated in our department, and review the relevant literature.
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Neoplasias de los Párpados/patología , Enfermedades del Cabello/patología , Pilomatrixoma/patología , Neoplasias Cutáneas/patología , Adolescente , Adulto , Niño , Preescolar , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto JovenRESUMEN
BACKGROUND: The concomitant occurrence of both intraocular and periocular lymphomas is extremely rare. Periocular involvement by lymphoproliferative disease ranges from benign lymphoid hyperplasia to malignant lymphoma. Intraocular lymphomas usually appear in conjunction with primary central nervous system lymphoma. CASE REPORTS: We describe clinical characteristics, standardized A- and B-scan ultrasonography, colour Doppler, computerized tomographic and magnetic resonance imaging, and immunohistological findings in three cases of concurrent choroidal and periocular involvement of lymphoma. DISCUSSION: The clinical presentation of diffuse choroidal tumours may be variable, making diagnosis of intraocular lymphoma troublesome on clinical grounds alone. The high accuracy of colour Doppler imaging is known to be effective in differentiating the benign from the malignant and adds valuable information in the differential diagnosis of a low reflective lesion. We suggest the use of auxiliary examinations such as ultrasonography and colour Doppler imaging to help in the differential diagnosis of choroidal and orbital tumours.
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Neoplasias de la Coroides/diagnóstico , Leucemia Linfocítica Crónica de Células B/diagnóstico , Linfoma no Hodgkin/diagnóstico , Neoplasias Primarias Múltiples/patología , Neoplasias Orbitales/diagnóstico , Adulto , Anciano , Femenino , Humanos , Inmunohistoquímica , Imagen por Resonancia Magnética , Masculino , Tomografía Computarizada por Rayos X , Ultrasonografía Doppler en ColorRESUMEN
We performed a retrospective study of 40 consecutive patients (50 eyes) treated for choroidal metastases of solid systemic malignancies in order to evaluate treatment results. Patients received either systemic or local therapy or a combination of both. The most common primary tumor was breast carcinoma (62.5%). Systemic chemotherapy alone was used in 13.3% of eyes, local therapy alone in 44.4%, and a combination of both in 42.2% of eyes. Local treatment modalities included brachytherapy, external beam irradiation, and laser photocoagulation. Complete regression of the choroidal metastases was seen in 57.8% of eyes, partial regression in 15.6 and no response in 4.4%; 22.2% were not available for re-evaluation. We have concluded that the treatment modality in patients with metastatic ocular disease should be individually tailored. When ocular metastases are concurrent with widespread metastatic disease, systemic chemotherapy alone or in combination with local therapy is reasonable. In patients manifesting metastases in the eyes alone, local therapy modalities may be safe, allowing conservation of visual functions with minimal systemic morbidity.
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Neoplasias de la Coroides/secundario , Neoplasias de la Coroides/terapia , Adulto , Anciano , Anciano de 80 o más Años , Antineoplásicos/uso terapéutico , Braquiterapia , Terapia Combinada , Femenino , Humanos , Coagulación con Láser , Masculino , Persona de Mediana Edad , Neoplasias/patología , Neoplasias/terapia , Estudios Retrospectivos , Agudeza VisualRESUMEN
OBJECTIVE: To evaluate whether healthy young children are able to perform automated static perimetry reliably using the frequency-doubling technology (FDT) perimeter. DESIGN: Prospective, observational case series. PARTICIPANTS: Forty healthy children aged 4 to 14 years. TESTING: Subjects underwent, in 1 randomly chosen eye, 2 consecutive visual field (VF) tests using the C-20 full-threshold program of the commercially available FDT. MAIN OUTCOME MEASURES: Global measures included mean deviation (MD), pattern standard deviation (PSD), test duration and reliability indices, including fixation losses and false-positive and false-negative errors. Fixation losses are checked 6 times throughout the examination, rather than being continuously monitored. Two scoring systems, based on the total deviation probability plot, classified each VF as normal or abnormal. RESULTS: All subjects completed the VF test. The better of 2 examinations (as determined by the MD score) was used for analysis. The average test duration was 4.9+/-0.7 minutes for the entire group. The mean MD and PSD were -0.78+/-4.9 and 6.7+/-6.2, respectively. A clear correlation to age was found for MD, PSD, abnormality of the VF, and test duration (all P<0.05). Of all VFs, 32.5% were unreliable, such that at younger than 8 years of age, 42.9% of the VFs were unreliable, compared with 23.1% for those older than 8 years. Younger than 8 years of age, 78.6% of VFs were abnormal, whereas for ages 8 years and older, 26.9% of VFs were abnormal. CONCLUSIONS: Frequency-doubling technology seems to be a clinically feasible VF method for evaluating young children older than approximately 8 years of age. The reliability indices, MD, test duration, and the reproducibility of the VF test were found to be highly correlated with age, in such a way that these parameters all improved with increasing age.