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The MAF gene encodes a transcription factor in which pathogenic variants have been associated with both isolated and syndromic congenital cataracts. We aim to review the MAF variants in the C-terminal DNA-binding domain associated with non-syndromic congenital cataracts and describe a patient with a novel, disease-causing de novo missense variant. Published reports of C-terminal MAF variants and their associated congenital cataracts and ophthalmic findings were reviewed. The patient we present and his biological parents had genetic testing via a targeted gene panel followed by trio-based whole exome sequencing. A 4-year-old patient with a history of bilateral nuclear and cortical cataracts was found to have a novel, likely pathogenic de novo variant in MAF, NM_005360.5:c.922A>G (p.Lys308Glu). No syndromic findings or anterior segment abnormalities were identified. We report the novel missense variant, c.922A>G (p.Lys308Glu), in the C-terminal DNA-binding domain of MAF classified as likely pathogenic and associated with non-syndromic bilateral congenital cataracts.
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Catarata , Mutação de Sentido Incorreto , Proteínas Proto-Oncogênicas c-maf , Humanos , Catarata/genética , Catarata/congênito , Catarata/patologia , Proteínas Proto-Oncogênicas c-maf/genética , Masculino , Pré-Escolar , Domínios Proteicos , Sequenciamento do ExomaRESUMO
A nearly 3-year-old boy on nightly dialysis presented emergently with sudden loss of vision. On examination, his visual acuity was light perception in the right eye and no light perception in the left eye. There was bilateral optic disk edema, diffuse pallor of posterior poles, and a cherry red spot in the left fundus. The patient was subsequently found to be hemodynamically unstable and admitted to the pediatric intensive care unit with presumed septic shock. Optical coherence tomography revealed paracentral acute middle maculopathy lesions in the right eye and diffusely thick retina in the left eye. Magnetic resonance imaging and magnetic resonance angiography of the brain and vessels did not reveal any acute findings. The patient's presentation was most consistent with bilateral nonarteritic ischemic optic neuropathy and unilateral central retinal artery occlusion. On repeat evaluation 9 months later, vision was largely unchanged.
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Neuropatia Óptica Isquêmica , Diálise Renal , Tomografia de Coerência Óptica , Humanos , Neuropatia Óptica Isquêmica/diagnóstico , Neuropatia Óptica Isquêmica/etiologia , Masculino , Pré-Escolar , Oclusão da Artéria Retiniana/diagnóstico , Oclusão da Artéria Retiniana/etiologia , Acuidade Visual/fisiologia , Vasos Retinianos/diagnóstico por imagem , Vasos Retinianos/patologia , Angiofluoresceinografia/métodos , Falência Renal Crônica/terapia , Falência Renal Crônica/complicaçõesRESUMO
Purpose: Presumed ocular histoplasmosis syndrome (POHS) is a posterior segment disorder that is usually subclinical unless choroidal neovascular membrane (CNVM) develops. It is thought to be the sequela of a prior systemic infection with Histoplasma capsulatum, and evidence supporting this association is based on epidemiologic, animal, and few enucleation studies. Acute presentation of chorioretinal involvement during an initial histoplasmosis systemic infection in immunocompetent patients is rarely reported, presumably due to the usual lack of or minimal symptoms of both the systemic and ocular disease. We report on an immunocompetent male with choroidal lesions detected during disseminated histoplasmosis infection and characterize the lesions using multimodal imaging. Observations: A 17-year-old male presented when routine optometry screening detected two deep, yellowish-white lesions in the left fundus. Optical coherence tomography (OCT) imaging confirmed a choroidal mass with extension through Bruch's membrane into the subretinal space and a small amount of subretinal fluid. Fluorescein angiography was suggestive of CNVM. There were no clinical findings of intraocular inflammation, and the patient was initially lost to follow-up. Eight weeks after last follow-up, the patient presented to the emergency department with fatigue, mild respiratory symptoms, and abdominal pain for the last month. Imaging revealed a mediastinal mass with hilar extension and innumerable nodules throughout the lung and spleen. Serum Histoplasma IgM/IgG were positive, and biopsy of the mediastinal mass revealed Histoplasma organisms. The patient was treated with antifungals and discharged. The patient underwent an extensive immunologic evaluation while admitted, which did not reveal an underlying immunodeficiency. On last follow-up, the choroidal lesions were smaller and more consolidated, and the subretinal fluid had resolved. Conclusions and Importance: We present a patient with choroidal lesions in the setting of disseminated systemic histoplasmosis infection and characterize a lesion using multimodal imaging. The presentation of acute chorioretinal lesions in the setting of biopsy proven systemic Histoplasma infection supports H. capsulatum as the etiology of POHS.
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SIGNIFICANCE: This pilot randomized trial, the first to evaluate a specific base-in relieving prism treatment strategy for childhood intermittent exotropia, did not support proceeding to a full-scale clinical trial. Defining and measuring prism adaptation in children with intermittent exotropia are challenging and need further study. PURPOSE: This study aimed to determine whether to proceed to a full-scale trial of relieving base-in prism spectacles versus refractive correction alone for children with intermittent exotropia. METHODS: Children 3 years old to those younger than 13 years with distance intermittent exotropia control score of ≥2 points on the Intermittent Exotropia Office Control Scale (Strabismus 2006;14:147-150; 0 [phoria] to 5 [constant]), ≥1 episode of spontaneous exotropia, and 16 to 35∆ by prism-and-alternate-cover test, who did not fully prism adapt on a 30-minute in-office prism-adaptation test were randomized to base-in relieving prism (40% of the larger of distance and near exodeviations) or nonprism spectacles for 8 weeks. A priori criteria to conduct a full-scale trial were defined for the adjusted treatment group difference in mean distance control: "proceed" (≥0.75 points favoring prism), "uncertain" (>0 to <0.75 points favoring prism), or "do not proceed" (≥0 points favoring nonprism). RESULTS: Fifty-seven children (mean age, 6.6 ± 2.2 years; mean baseline distance control, 3.5 points) received prism (n = 28) or nonprism (n = 29) spectacles. At 8 weeks, mean control values were 3.6 and 3.3 points in prism (n = 25) and nonprism (n = 25) groups, respectively, with an adjusted difference of 0.3 points (95% confidence interval, -0.5 to 1.1 points) favoring nonprism (meeting our a priori "do not proceed" criterion). CONCLUSIONS: Base-in prism spectacles, equal to 40% of the larger of the exodeviations at distance or near, worn for 8 weeks by 3- to 12-year-old children with intermittent exotropia did not yield better distance control than refractive correction alone, with the confidence interval indicating that a favorable effect of 0.75 points or larger is unlikely. There was insufficient evidence to warrant a full-scale randomized trial.
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Exotropia , Criança , Humanos , Pré-Escolar , Exotropia/terapia , Óculos , Projetos Piloto , Refração Ocular , Testes VisuaisRESUMO
PURPOSE: To examine the association of childhood strabismus with functional limitation to identify particular domains of impairment. METHODS: The authors analyzed 201 children ages 5 to 17 years with strabismus enrolled in the 1996-2015 Medical Expenditure Panel Surveys, representative annual surveys of the U.S. POPULATION: Functional impairment was assessed using the Columbia Impairment Scale (CIS), a validated measure of behavioral and psychosocial functioning. A CIS score of 16 or greater defined clinically significant functional impairment. Multivariate regression models adjusted for age, sex, race, ethnicity, household income, geographic location, and insurance type were constructed to examine the association of strabismus diagnosis with overall impairment and individual domains of function. RESULTS: Children diagnosed as having strabismus had higher rates of clinically significant functional impairment compared to those without strabismus (15.1% vs 9.1%, adjusted odds ratio [95% CI]: 1.82 [1.11 to 2.97], P = .02). Moreover, strabismus diagnosis was associated with higher rates of problems with getting along with their mother (1.70 [1.21 to 2.40], P = .003) and father (1.66 [1.16 to 2.38], P = .006), getting along with other children (1.67 [1.16 to 2.40], P = .006), behavior at home (1.94 [1.37 to 2.74], P = .0002), staying out of trouble (1.52 [1.04 to 2.23], P = .03), nervousness (1.49 [1.05 to 2.11], P = .02), and getting involved with sports and hobbies (1.55 [1.03 to 2.34], P = .04). CONCLUSIONS: Childhood strabismus is associated with 1.8-fold greater odds of clinically significant functional impairment, with greater dysfunction in specific relationship and behavioral domains. Functional burden may be an important consideration in management decisions. [J Pediatr Ophthalmol Strabismus. 2023;60(4):268-276.].
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Background Fellowship program Web sites are a crucial source of information for prospective pediatric ophthalmology applicants, especially in light of the restrictions on in-person interactions due to the coronavirus disease 2019 pandemic. Objective This study examined all pediatric ophthalmology fellowship Web sites for availability and presented recruitment and training content. Methods A full list of all pediatric ophthalmology and strabismus (POAS) fellowship programs were compiled from the Association of University Professors of Ophthalmology (AUPO) directory and the San Francisco Match (SFMatch) application listing. Each fellowship was queried by Google Internet search to identify the program's corresponding Web site. The content of Web sites was evaluated using 20 predetermined recruitment and training criteria. All data were collected in February 2022. Kruskal-Wallis and Mann-Whitney U tests were constructed to examine differences by geographic location, program size, number of teaching faculty, and affiliation with a top ophthalmology residency program. Results There were 45 pediatric ophthalmology fellowships identified from the AUPO and SFMatch. All pediatric ophthalmology fellowships had an available program Web site. However, there was significant variability in content, and the average Web site had approximately half of the evaluated criteria. POAS Web sites reported a greater number of recruitment criteria than program training criteria. There were no differences by program size, number of faculty, affiliation with a top residency program, or geographic location in the number of observed criteria. Conclusions This study provides data to drive efforts to improve pediatric ophthalmology fellowship Web sites. Pediatric ophthalmology fellowship Web sites are missing important information, and there are opportunities to improve program Web sites, regardless of program size, number of faculty, affiliation with a top residency, and geographic location. Informative, accurate Web sites may attract qualified candidates, and as a result, elevate the likelihood that interviewed candidates are well-suited to the program. As such, improvements to fellowship Web sites can streamline the application process and increase a program's success rate in the match.
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BACKGROUND: A fetal scalp electrode (FSE), first described by Edward Hon in 1967, is an intrapartum monitoring device embedded directly into the fetal scalp for an accurate measure of fetal heart rate. Though use of an FSE is generally safe, complications can occur from misplacement, including ophthalmic injury. CASE PRESENTATION: Patient was a 28-year-old G6P5006 who presented for induction of labor at 39 weeks due to asymptomatic bilateral pulmonary embolism. Concerning findings on external fetal monitoring led to placement of a fetal scalp electrode for close monitoring. Upon delivery, the neonate was noted to have the FSE embedded in the left upper eyelid. Ophthalmology was consulted and could not rule out ocular injury on external examination at the bedside. Examination under anesthesia in the operating room demonstrated no penetration of the ocular globe, and the eyelid laceration was sutured. The laceration was well-healing at one-week follow-up with no further complications. CONCLUSION: Facial or brow presentation during delivery is rare but may increase the risk for misplacement of an FSE. Ultrasound verification of vertex position is warranted immediately prior to placing an FSE for patients at higher risk of facial or brow presentation. Periorbital edema of neonates may protect against damage to deeper structures. However, Ophthalmology should be consulted to rule out ocular injury if the FSE is placed in the periocular region.
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Lacerações , Couro Cabeludo , Gravidez , Recém-Nascido , Feminino , Humanos , Adulto , Lacerações/etiologia , Eletrodos , Pálpebras/cirurgia , Apresentação no Trabalho de PartoRESUMO
IMPORTANCE: Cataract is an important cause of visual impairment in children. Data from a large pediatric cataract surgery registry can provide real-world estimates of visual outcomes and the 5-year cumulative incidence of adverse events. OBJECTIVE: To assess visual acuity (VA), incidence of complications and additional eye operations, and refractive error outcomes 5 years after pediatric lensectomy among children younger than 13 years. DESIGN, SETTING, AND PARTICIPANTS: This prospective cohort study used data from the Pediatric Eye Disease Investigator Group clinical research registry. From June 2012 to July 2015, 61 eye care practices in the US, Canada, and the UK enrolled children from birth to less than 13 years of age who had undergone lensectomy for any reason during the preceding 45 days. Data were collected from medical record reviews annually thereafter for 5 years until September 28, 2020. EXPOSURES: Lensectomy with or without implantation of an intraocular lens (IOL). MAIN OUTCOMES AND MEASURES: Best-corrected VA and refractive error were measured from 4 to 6 years after the initial lensectomy. Cox proportional hazards regression was used to assess the 5-year incidence of glaucoma or glaucoma suspect and additional eye operations. Factors were evaluated separately for unilateral and bilateral aphakia and pseudophakia. RESULTS: A total of 994 children (1268 eyes) undergoing bilateral or unilateral lensectomy were included (504 [51%] male; median age, 3.6 years; range, 2 weeks to 12.9 years). Five years after the initial lensectomy, the median VA among 701 eyes with available VA data (55%) was 20/63 (range, 20/40 to 20/100) in 182 of 316 bilateral aphakic eyes (58%), 20/32 (range, 20/25 to 20/50) in 209 of 386 bilateral pseudophakic eyes (54%), 20/200 (range, 20/50 to 20/618) in 124 of 202 unilateral aphakic eyes (61%), and 20/65 (range, 20/32 to 20/230) in 186 of 364 unilateral pseudophakic eyes (51%). The 5-year cumulative incidence of glaucoma or glaucoma suspect was 46% (95% CI, 28%-59%) in participants with bilateral aphakia, 7% (95% CI, 1%-12%) in those with bilateral pseudophakia, 25% (95% CI, 15%-34%) in those with unilateral aphakia, and 17% (95% CI, 5%-28%) in those with unilateral pseudophakia. The most common additional eye surgery was clearing the visual axis, with a 5-year cumulative incidence of 13% (95% CI, 8%-17%) in participants with bilateral aphakia, 33% (95% CI, 26%-39%) in those with bilateral pseudophakia, 11% (95% CI, 6%-15%) in those with unilateral aphakia, and 34% (95% CI, 28%-39%) in those with unilateral pseudophakia. The median 5-year change in spherical equivalent refractive error was -8.38 D (IQR, -11.38 D to -2.75 D) among 89 bilateral aphakic eyes, -1.63 D (IQR, -3.13 D to -0.25 D) among 130 bilateral pseudophakic eyes, -10.75 D (IQR, -20.50 D to -4.50 D) among 43 unilateral aphakic eyes, and -1.94 D (IQR, -3.25 D to -0.69 D) among 112 unilateral pseudophakic eyes. CONCLUSIONS AND RELEVANCE: In this cohort study, development of glaucoma or glaucoma suspect was common in children 5 years after lensectomy. Myopic shift was modest during the 5 years after placement of an intraocular lens, which should be factored into implant power selection. These results support frequent monitoring after pediatric cataract surgery to detect glaucoma, visual axis obscuration causing reduced vision, and refractive error.
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Afacia Pós-Catarata , Afacia , Extração de Catarata , Catarata , Glaucoma , Hipertensão Ocular , Erros de Refração , Afacia/complicações , Afacia Pós-Catarata/epidemiologia , Afacia Pós-Catarata/etiologia , Catarata/etiologia , Extração de Catarata/efeitos adversos , Extração de Catarata/métodos , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Seguimentos , Glaucoma/diagnóstico , Glaucoma/epidemiologia , Glaucoma/etiologia , Humanos , Lactente , Implante de Lente Intraocular/efeitos adversos , Masculino , Hipertensão Ocular/etiologia , Estudos Prospectivos , Pseudofacia/epidemiologia , Erros de Refração/complicações , Transtornos da Visão/etiologia , Acuidade VisualRESUMO
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.
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AIM: To investigate the impact of concussion on pupillary function in children by examining pupillometric parameters and assessing for differences in children reporting photosensitivity. METHODS: Retrospective chart review was performed of pediatric patients referred for visual symptoms after concussion from 2017 to 2018 seen in a single academic outpatient clinic. Pupillometry data of 92 patients were included. Outcomes were compared to normative pediatric data from the same institution by 2-sample t tests. The association between photosensitivity and each outcome was assessed by use of linear mixed models with photosensitivity as a fixed effect and random patient effect. RESULTS: Outcomes of 181 eyes in 92 concussion patients were averaged by patient and compared to normative values in scotopic conditions. Concussion patients had an average age of 13.8 ± 2.64 years. Average constriction velocity (P = .0008), maximum constriction velocity (P = .0012), and average dilation velocity (P = .0034) were faster in concussion patients, whereas 75% recovery times (P = .0027) was increased. Photosensitivity did not significantly affect measured pupillary responses. CONCLUSION: Dynamic pupillary responses may be increased in pediatric concussion. Pupillometry may provide insight into the complex pathophysiological changes underlying pediatric concussion.
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Concussão Encefálica/fisiopatologia , Reflexo Pupilar/fisiologia , Adolescente , Criança , Feminino , Humanos , Masculino , Pupila/fisiologia , Estudos RetrospectivosRESUMO
PURPOSE: To present a pediatric case series in which the flanged intrascleral intraocular lens (IOL) fixation technique (Yamane technique) was used to correct aphakia. METHODS: The surgical database of a single tertiary children's hospital was reviewed to identify all patients who underwent secondary IOL implantation by a single surgeon from May 2018 to January 2020. The medical records and operative reports of all patients operated on using the Yamane technique were reviewed retrospectively. Intra- and postoperative complications and pre- and postoperative vision and refraction were documented to assess outcomes. RESULTS: A total of 12 eyes of 10 consecutive patients were included. Mean age at surgery was 10 ± 6 years. Indications for scleral fixation were ectopia lentis (secondary to Marfan syndrome [n = 3] or idiopathic [n = 1]), lens subluxation with intermittent pupillary block secondary to Weill- Marchesani syndrome (n = 2), early childhood lensectomy with insufficient residual capsular support (n = 5), and traumatic aphakia after an open globe (n = 1). Mean follow-up was 8 ± 5 months. No major intraoperative complications occurred. Postoperatively 1 patient required IOL repositioning 1 week after surgery. The location of one haptic was noted to be intrascleral but superficial in another patient, who did not require surgical intervention. The mean postoperative astigmatism was 2 ± 2 D. Good visual results were achieved in all eyes. CONCLUSIONS: With slight modifications, the Yamane technique can be adapted to the pediatric eye. This technique has significant surgical and anatomic advantages and provides stable IOL fixation. Visual outcomes and adverse events compare favorably with older techniques.
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Afacia , Lentes Intraoculares , Afacia/cirurgia , Criança , Pré-Escolar , Humanos , Implante de Lente Intraocular , Complicações Pós-Operatórias , Estudos Retrospectivos , Esclera/cirurgia , Acuidade VisualRESUMO
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.
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BACKGROUND: Pupillary evaluation is a crucial element of physical exams. Noting size, reactivity, and consensual response is critical in assessing for optic nerve dysfunction. We aim to establish normative data for scotopic pupillary size and function in the pediatric population in a clinical setting. METHODS: Pupillometry was obtained prospectively for consecutive, normal patients < 18 years old being evaluated by Lurie Children's Ophthalmology. Quantitative data included maximum (MAX) and minimum (MIN) diameters, constriction percentage (CON), latency (LAT), average (ACV) and maximum (MCV) constriction velocities, average dilation velocity (ADV), and 75% recovery time (T75). Iris color was noted as light, intermediate, or dark. RESULTS: 196 eyes of 101 participants (42.6% male, ages 1-17 years, average age 10.3 years) were analyzed. Mean MAX was 6.6 mm (5.1-8.1 mm 95% CI); MIN was 4.7 mm (3.1-6.1 mm 95% CI); CON was 30% (17-42 95% CI); LAT was 230 milliseconds (160-300 ms 95% CI); ACV was 3.70 mm/sec (2.21-5.18 mm/sec 95% CI); and ADV was 0.88 mm/sec (0.38-1.38 mm/sec 95% CI). Age had a positive correlation with MAX, MIN, and CON. 84.2 and 95.8% of participants showed resting pupil asymmetry of ≤0.5 mm and ≤ 1.0 mm, respectively. CONCLUSIONS: Quantitative pupillometry can be a useful tool for screening pediatric patients. We sought to establish normative data in this group. We found males to have significantly greater MCV and CON than females (p < 0.05). Also, age had a positive correlation with MAX, MIN, and CON.
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Iris/anatomia & histologia , Pupila/fisiologia , Reflexo Pupilar/fisiologia , Adolescente , Criança , Pré-Escolar , Bases de Dados Factuais , Técnicas de Diagnóstico Oftalmológico/instrumentação , Cor de Olho/fisiologia , Feminino , Humanos , Lactente , Luz , Masculino , Visão Noturna/fisiologia , Distribuição Normal , Exame Físico , Estudos ProspectivosRESUMO
We present the case of a 4-year-old boy with acquired Brown syndrome of inflammatory origin. Without evidence of systemic inflammation, the disease typically resolves with oral steroids or nonsteroidal anti-inflammatory drugs. Refractory cases can be treated with local steroid injections or surgery. The present case of inflammatory Brown syndrome did not respond to conservative therapy, and parental concerns and wishes precluded more invasive treatments. Adalimumab was initiated and led to complete resolution of the disease.
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Adalimumab/uso terapêutico , Transtornos da Motilidade Ocular , Anti-Inflamatórios , Pré-Escolar , Humanos , Masculino , Transtornos da Motilidade Ocular/tratamento farmacológico , EsteroidesRESUMO
Pott's puffy tumor is a significant complication of frontal sinusitis that leads to frontal bone osteomyelitis and can be associated with frontal swelling, subperiosteal abscess, and intracranial abscess. It may be associated with antecedent trauma and typically presents in adolescents. Orbital involvement is rarely reported. We describe the case of a 15-year-old male who presented after blunt facial trauma with orbital hematoma and developed Pott's puffy tumor with orbital cellulitis and subperiosteal abscess. Management required a collaborative, multidisciplinary effort that yielded a good outcome.
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Edema/terapia , Doenças Orbitárias/etiologia , Doenças Orbitárias/terapia , Tumor de Pott/diagnóstico por imagem , Adolescente , Anti-Infecciosos/uso terapêutico , Traumatismos em Atletas/complicações , Biópsia por Agulha , Terapia Combinada , Drenagem/métodos , Edema/etiologia , Traumatismos Faciais/complicações , Seguimentos , Humanos , Imuno-Histoquímica , Imageamento por Ressonância Magnética/métodos , Masculino , Tumor de Pott/etiologia , Tumor de Pott/terapia , Resultado do Tratamento , Ferimentos não Penetrantes/complicaçõesRESUMO
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.
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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 , PrognósticoRESUMO
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.
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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/fisiologiaRESUMO
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.
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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 TratamentoRESUMO
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.
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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.