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Objective: To determine the appropriateness of ophthalmology recommendations from an online chat-based artificial intelligence model to ophthalmology questions. Patients and Methods: Cross-sectional qualitative study from April 1, 2023, to April 30, 2023. A total of 192 questions were generated spanning all ophthalmic subspecialties. Each question was posed to a large language model (LLM) 3 times. The responses were graded by appropriate subspecialists as appropriate, inappropriate, or unreliable in 2 grading contexts. The first grading context was if the information was presented on a patient information site. The second was an LLM-generated draft response to patient queries sent by the electronic medical record (EMR). Appropriate was defined as accurate and specific enough to serve as a surrogate for physician-approved information. Main outcome measure was percentage of appropriate responses per subspecialty. Results: For patient information site-related questions, the LLM provided an overall average of 79% appropriate responses. Variable rates of average appropriateness were observed across ophthalmic subspecialties for patient information site information ranging from 56% to 100%: cataract or refractive (92%), cornea (56%), glaucoma (72%), neuro-ophthalmology (67%), oculoplastic or orbital surgery (80%), ocular oncology (100%), pediatrics (89%), vitreoretinal diseases (86%), and uveitis (65%). For draft responses to patient questions via EMR, the LLM provided an overall average of 74% appropriate responses and varied by subspecialty: cataract or refractive (85%), cornea (54%), glaucoma (77%), neuro-ophthalmology (63%), oculoplastic or orbital surgery (62%), ocular oncology (90%), pediatrics (94%), vitreoretinal diseases (88%), and uveitis (55%). Stratifying grades across health information categories (disease and condition, risk and prevention, surgery-related, and treatment and management) showed notable but insignificant variations, with disease and condition often rated highest (72% and 69%) for appropriateness and surgery-related (55% and 51%) lowest, in both contexts. Conclusion: This LLM reported mostly appropriate responses across multiple ophthalmology subspecialties in the context of both patient information sites and EMR-related responses to patient questions. Current LLM offerings require optimization and improvement before widespread clinical use.
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Purpose: Although dissociated vertical deviation (DVD) is reported to occur rarely in children with intermittent exotropia (IXT), little is known regarding the clinical features of these children. The purpose of this study was to compare the demographic and clinical characteristics of children with intermittent exotropia and DVD to those without DVD. Methods: The medical records of all children diagnosed with intermittent exotropia at our institution from 1 January 2002, through 31 December 2018, who had 2 or more exams with 3 or more assessments of control, were retrospectively reviewed. Exotropic children with DVD were compared to those without DVD. Results: During the 17-year study period, 115 children met the inclusion criteria, of which 25 (21.7%) had DVD. Compared to the 90 exotropic children without DVD, children with IXT and DVD were more likely to have a motility disorder (p = .021), a worse mean distance control score (2.8 vs 2.4; p = .09), a larger mean angle of deviation (27.8 prism diopters [PD] vs 25.1 PD; p = .04), and a lower median stereopsis (200 secs vs 100 secs; p = .08). The children with DVD were more likely to have undergone surgery (p = .17) although there was no difference in the mean age at initial surgery between the two groups. Conclusions: The presence of dissociated vertical deviation in children with intermittent exotropia is associated with more motility disorders and worse binocular function compared to those without DVD. These children will likely require closer observation and earlier intervention.
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BACKGROUND: Although presumed microvascular third nerve palsies (TNP) have been associated with vascular risk factors and/or stroke, these associations have not been explored in a population-based cohort. The purpose of this population-based case-control study was to determine whether these factors are associated with TNPs that had been classified as isolated microvascular ischemic events and determine future risk of mortality. METHODS: Participants were subjects >18 years old with new onset of isolated TNP attributed to presumed microvascular ischemia (n = 55) while residing in Olmsted County, Minnesota, from January 1, 1978 to December 31, 2014. Control subjects (n = 55) were randomly selected from the same population and matched for gender, age, and length of medical follow-up. We identified all cases of new-onset isolated presumed microvascular ischemic TNP using the Rochester Epidemiology Project, a record-linkage system of medical records for all patient-physician encounters in Olmsted County, Minnesota. All medical records of cases and controls were reviewed for potential risk factors, including diabetes mellitus, diabetic retinopathy, hypertension, hyperlipidemia, smoking, and symptomatic ischemic stroke. Multivariable and univariate logistic regression analyses were used to compare the prevalence of potential risk factors between microvascular ischemic cases and controls according to the number of subjects, and odds ratios (ORs) with 95% confidence intervals (CIs) were calculated. Kaplan-Meier curves were used to compare mortality between cases and controls. RESULTS: The annual incidence of microvascular ischemic TNP was 1.7 per 100,000. Univariate analysis demonstrated that hypertension ( P < 0.001; OR, 4.80; 95% CI, 2.11-11.58), diabetes mellitus ( P < 0.001; OR, 6.55; 95% CI, 2.72-17.32), diabetic retinopathy ( P = 0.014; OR, 13.50; 95% CI, 2.48-251.55), coronary artery disease ( P = 0.047; OR, 2.27; 95% CI, 1.02-5.18), and symptomatic ischemic stroke ( P = 0.039; OR, 3.56; 95% CI, 1.07-11.85) all occurred more frequently in patients with microvascular ischemic TNP than controls. In multivariate analysis, only hypertension (OR of 4.14, 95% CI, 1.61-10.65, P < 0.001) and diabetes (OR of 4.12, 95% CI, 1.43-11.92, P = 0.003) remained independently statistically significant. There was numerically higher mortality in microvascular cases than in controls, but it did not reach statistical significance. CONCLUSIONS: There are multiple cardiovascular diseases that are associated with isolated microvascular ischemic TNP, including hypertension, coronary artery disease, diabetes mellitus, diabetic retinopathy, and symptomatic ischemic stroke. Given that the main drivers of this association seem to be diabetes and hypertension, patients with microvascular ischemic TNP should be evaluated for these conditions.
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Doença da Artéria Coronariana , Retinopatia Diabética , Hipertensão , AVC Isquêmico , Doenças do Nervo Oculomotor , Acidente Vascular Cerebral , Humanos , Adolescente , Estudos de Casos e Controles , Retinopatia Diabética/complicações , Fatores de Risco , Doenças do Nervo Oculomotor/etiologia , Acidente Vascular Cerebral/epidemiologia , Acidente Vascular Cerebral/complicações , Hipertensão/complicações , Hipertensão/epidemiologia , IsquemiaRESUMO
PURPOSE: To report the prevalence, clinical characteristics, and natural history of orbital vascular anomalies diagnosed among children over a 50-year period. METHODS: The medical records of all patients <19 years diagnosed with any form of an orbital vascular anomaly (OVA) at Mayo Clinic, Rochester, Minnesota from January 1 1966, through December 31 2015, were retrospectively reviewed. RESULTS: A total of 109 children were diagnosed with OVA during the 50-year period, of which 24 were from Olmsted County, MN, yielding a birth prevalence of 1 in 4,305 live births. The median age at diagnosis for the 109 patients was 1.2 years (range, 0-17.9 years) and 67 (61.5%) were female. Common presenting symptoms included proptosis in 80 (73.4%) patients, abnormalities in skin color in 45 (41.3%) patients, and pain in 18 (16.5%) patients. There were 55 (50.5%) vascular malformations [50 (91%) low-flow lymphatic malformations, 3 (5.5%) high-flow arteriovenous malformations, and 2 (3.5%) low-flow venous malformations] and 54 (49.5%) vascular tumors [53 (98%) capillary hemangiomas and 1 (2%) kaposiform hemangioendothelioma]. During a mean follow-up of 5.95 years (range 0-27.7 years), amblyopia and/or strabismus were diagnosed in 46 (43.4%) patients. CONCLUSIONS: Capillary hemangiomas and low-flow lymphatic malformations comprise most of the orbital vascular anomalies in this cohort of children. Amblyopia and strabismus are common sequelae, highlighting the importance of early diagnosis and appropriate management.
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Ambliopia , Hemangioma Capilar , Estrabismo , Malformações Vasculares , Criança , Humanos , Feminino , Masculino , Prevalência , Estudos Retrospectivos , Malformações Vasculares/diagnóstico , Malformações Vasculares/epidemiologiaRESUMO
Amblyogenic congenital ptosis in a young child generally requires amblyopia therapy and, if that proves ineffective, prompt surgical intervention. However, early surgery for severe congenital ptosis is often associated with poor cosmesis and a higher reoperation rate than surgery performed near school age. We report the case of a child with amblyogenic congenital ptosis successfully managed with upper eyelid taping through 5 years of age.
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Ambliopia , Blefaroplastia , Blefaroptose , Criança , Humanos , Blefaroptose/cirurgia , Pálpebras/cirurgia , Ambliopia/terapia , Ambliopia/complicações , Reoperação , Estudos RetrospectivosRESUMO
Age-related distance esotropia (ARDET) is characterized by an esodeviation greater at distance than near in older aged patients and generally managed with prism spectacles or surgery. The purpose of this study is to describe the prevalence, clinical characteristics, and natural history of age-related distance esotropia in a defined population. The medical records of all adult (≥19 years of age) residents of Olmsted County, Minnesota, diagnosed with an esodeviation at least 2 prism diopters (PD) greater at distance than near, from 1 January 1985, through 31 December 2004, were retrospectively reviewed. Seventy-three (9.7%) of 751 new cases of adult-onset strabismus were diagnosed with age-related distance esotropia during the 20-year period. The mean age of onset was 70 years (range, 19 to 93 years) and 48 (65.8%) were female (p = .007). The mean angle of esodeviation was 7.6 (range, 2 to 20) prism diopters (PD) at distance and 0.4 (range, 10 PD of XT to 12 PD of ET) PD at near. The Kaplan-Meier rate of progression, as defined by a ≥ 6 prism diopter (PD) increase in esotropia, was 50% by 15 years after diagnosis. Half of the patients had hypertension, while one-third had coronary artery disease or other cardiac comorbidities. Age-related distance esotropia comprised 1 in 10 adults with new-onset strabismus in this population and was significantly more common among women. Hypertension and cardiovascular disease may be risk factors for this form of strabismus, and approximately half of the patients worsened over a 15-year period.
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Esotropia , Hipertensão , Adulto , Feminino , Humanos , Adulto Jovem , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Masculino , Músculos Oculomotores/cirurgia , Estudos Retrospectivos , Esotropia/epidemiologia , Esotropia/terapia , Hipertensão/cirurgia , Fatores de Risco , Resultado do Tratamento , Procedimentos Cirúrgicos OftalmológicosRESUMO
IMPORTANCE: Despite the increasing prevalence of type 2 diabetes (T2D) diagnosed in childhood, little is known about the natural history of ocular sequelae in youth-onset T2D compared with type 1 diabetes (T1D). OBJECTIVE: To assess the risk of developing diabetes-associated ocular complications among youth diagnosed with diabetes. DESIGN, SETTING, AND PARTICIPANTS: This retrospective, population-based medical record review included all residents of Olmsted County, Minnesota (95.7% White in 1990), diagnosed with diabetes at younger than 22 years (hereinafter referred to as children) from January 1, 1970, through December 31, 2019. MAIN OUTCOMES AND MEASURES: Risk of developing ocular complications over time. RESULTS: Among 1362 individuals with a diagnostic code of diabetes, medical record reviews confirmed a diagnosis of T1D or T2D in 606 children, of whom 525 (86.6%) underwent at least 1 eye examination (mean [SD] age at diabetes diagnosis, 12.1 [5.4] years; 264 [50.3%] male). Diabetes-associated ocular complications occurred in 147 of the 461 children (31.2%) with T1D and in 17 of the 64 children (26.6%) with T2D. The hazard ratio illustrating the risk between T2D and T1D rates was 1.88 (95% CI, 1.13-3.12; P = .02) for developing any diabetic retinopathy (nonproliferative or greater), 2.33 (95% CI, 0.99-5.50; P = .048) for proliferative diabetic retinopathy, 1.49 (95% CI, 0.46-4.89; P = .50) for diabetic macular edema, 2.43 (95% CI, 0.54-11.07; P = .24) for a visually significant cataract, and 4.06 (95% CI, 1.34-12.33; P = .007) for requiring pars plana vitrectomy by 15 years after the diagnosis of diabetes. CONCLUSIONS AND RELEVANCE: Diabetic retinopathy, proliferative diabetic retinopathy, and the need for pars plana vitrectomy occurred within a shorter diabetes duration for children with T2D compared with T1D in this population-based cohort. Children with T2D had almost twice the risk of developing retinopathy compared with those with T1D. These findings suggest that to prevent serious ocular complications, children with T2D may require ophthalmoscopic evaluations at least as frequently as or more frequently than children with T1D.
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Diabetes Mellitus Tipo 1 , Diabetes Mellitus Tipo 2 , Retinopatia Diabética , Edema Macular , Adolescente , Criança , Diabetes Mellitus Tipo 1/complicações , Diabetes Mellitus Tipo 1/diagnóstico , Diabetes Mellitus Tipo 1/epidemiologia , Diabetes Mellitus Tipo 2/complicações , Diabetes Mellitus Tipo 2/diagnóstico , Diabetes Mellitus Tipo 2/epidemiologia , Retinopatia Diabética/diagnóstico , Retinopatia Diabética/epidemiologia , Retinopatia Diabética/etiologia , Progressão da Doença , Feminino , Humanos , Edema Macular/complicações , Masculino , Estudos RetrospectivosRESUMO
PRECIS: Diplopia was present in ~20% of patients with Ahmed FP7 (FP7) or Baerveldt 350 (B350), compared with 5% to 6% in those with Baerveldt 250 (B250) or controls, suggesting risk of diplopia should be included in preoperative counseling. PURPOSE: The purpose of this study was to examine the prevalence of diplopia and strabismus in patients with B250, B350, or FP7 glaucoma drainage devices (GDD). MATERIALS AND METHODS: In this cohort study, glaucoma patients 18 years and above who had received, or would be receiving, a B250, B350, or FP7 GDD, and medically treated controls were consecutively enrolled from August 8, 2017, through July 31, 2019. The Diplopia Questionnaire was administered ≥30 days postoperatively, and upon enrollment to the controls. All diplopic patients underwent orthoptic measurements, which were reviewed by a strabismus specialist. Patients with GDDs in quadrants other than superotemporal, multiple GDDs, or scleral buckles were excluded. Bonferroni correction was applied for pairwise comparisons. RESULTS: Diplopia was reported in 23/129 (17.8%) GDD patients and 5/99 (5.1%) control patients (P=0.003): 8/35 (22.9%) FP7, 2/32 (6.3%) B250, and 13/62 (21.0%) B350, with significant differences between FP7 versus controls (P=0.014) and B350 versus controls (P=0.011). Diplopia was attributable to GDD in 2 FP7 (5.9%, 95% confidence interval: 0.7-19.2), 0 B250, and 4 B350 (6.5%, 95% confidence interval: 1.7-15.2) patients, without significant differences between the GDDs. CONCLUSIONS: Patients with the larger (B350) or the higher profile plate (FP7) GDDs were more likely to experience diplopia than controls, and diplopia was attributable to the GDD in ~6% of patients with either a FP7 or a B350 GDD. Since diplopia can affect patients' quality of life, preoperative counseling for GDD surgery, particularly B350 and FP7, should include a discussion of the risk of diplopia.
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Implantes para Drenagem de Glaucoma , Glaucoma , Estudos de Coortes , Diplopia/epidemiologia , Humanos , Pressão Intraocular , Qualidade de Vida , Resultado do TratamentoRESUMO
PURPOSE: To assess the risk of vision-threatening anterior segment ischemia (ASI) among retinopathy of prematurity (ROP) patients treated with anti-VEGF followed by laser photocoagulation. METHODS: The medical records of all infants treated for threshold ROP with laser photocoagulation with and without prior anti-VEGF injections from January 1, 2002, through December 2018 at Mayo Clinic were retrospectively reviewed for the prevalence of vision-threatening ASI. RESULTS: A total of 241 eyes of 122 infants were included. Mean gestational age was 25.1 weeks (range, 22.9-28.7); mean birth weight was 687.6 g (range, 360-1310 g). Of the 54 eyes (27 patients) treated with anti-VEGF prior to laser, 4 developed ASI (including corneal edema, cataracts, and choroidal effusion) compared with 2 of the 187 eyes (95 patients) treated with laser therapy alone (P = 0.008). Infants receiving both anti-VEGF and laser had a younger gestational age at birth (24.5 vs 25.3 weeks; P < 0.001) and lower birth weight (591.4 g vs 715.0 g; P < 0.001) than those who received laser alone. In multivariate analysis, early gestational age at birth was associated with development of ASI (P = 0.03); the association with anti-VEGF treatment (P = 0.07) fell short of statistical significance. CONCLUSIONS: The prevalence of vision-threatening ASI was higher among infants treated with intravitreal anti-VEGF followed by laser compared to those treated with laser alone. Further investigation is warranted to confirm this finding and identify potential factors for decreasing the risk of ASI.
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Fatores de Crescimento Endotelial , Retinopatia da Prematuridade , Inibidores da Angiogênese/uso terapêutico , Bevacizumab/uso terapêutico , Fatores de Crescimento Endotelial/uso terapêutico , Idade Gestacional , Humanos , Lactente , Recém-Nascido , Injeções Intravítreas , Isquemia , Fotocoagulação a Laser , Lasers , Retinopatia da Prematuridade/cirurgia , Estudos Retrospectivos , Fator A de Crescimento do Endotélio VascularRESUMO
PURPOSE: To determine whether health-related quality of life (HRQOL) scores improved or worsened over 3 years of observation in childhood intermittent exotropia without treatment. METHODS: A total of 111 children aged 3-11 years with intermittent exotropia were assigned to observation in a previously reported randomized trial comparing patching with observation. The intermittent exotropia questionnaire (IXTQ) was administered at baseline, 6 months, and 36 months. Rasch-calibrated IXTQ domain scores (Child, Proxy, Parent-psychosocial, Parent-function, and Parent-surgery) were compared between time points. The Child IXTQ was administered only to children ≥5 years of age (n = 78). RESULTS: Overall, Child IXTQ and Proxy IXTQ scores showed no significant change over 36 months (mean improvement from baseline to 36 months of 3.2 points [95% CI, -1.9 to 8.2] and -2.4 points [95% CI: -7.9 to 3.1], resp.). By contrast, Parent-psychosocial, Parent-function, and Parent-surgery domain scores all improved over 36 months (mean improvements of 12.8 points [95% CI, 5.9-19.6] and 14.2 points [95% CI, 8.0-20.3] and 18.5 points [95% CI, 9.7-27.3], resp.). CONCLUSIONS: HRQOL of children with intermittent exotropia remains stable with observation over 3 years (by both child and proxy report), whereas parental HRQOL improves.
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Exotropia , Qualidade de Vida , Criança , Nível de Saúde , Humanos , Pais , Perfil de Impacto da Doença , Inquéritos e QuestionáriosRESUMO
PURPOSE: The purpose of this retrospective cohort study was to report the outcomes of high AC/A ratio accommodative esotropia (AET) among children. METHODS: The medical records of all children <19 years diagnosed with accommodative esotropia and a high AC/A ratio while residing in Olmsted County, Minnesota, from January 1, 1975, through December 31, 2004, were retrospectively reviewed. RESULTS: A total of 512 patients were diagnosed with AET during the 30-year study period, of which 395 (77.1%) had fully accommodative ET, 117 (22.8%) had partially accommodative ET and 106 (20.5%) had a high AC/A ratio. Of the 93 (87.7 %) high AC/A patients managed with bifocals, 50 (53.8 %) discontinued their use after a mean of 58.7 (range: 5.6-229) months. The Kaplan-Meier rate of discontinuing bifocals was 24.5% at 3 years, 36.4% at 5 years, and 61.4% at 10 years. Patients who discontinued bifocals were more likely to have had strabismus surgery (44% vs 18.6%, p = 0.009) than those who did not discontinue bifocals. The high AC/A patients managed with bifocals achieved similar stereoacuity outcomes to those who did not wear bifocals (p = 0.65) and were no more likely to require surgery (p = 0.13). CONCLUSION: Among this cohort of children with accommodative esotropia and a high AC/A ratio, bifocal use was discontinued in the majority of children within 10 years, and more commonly among those who underwent strabismus surgery. The use of bifocals was not associated with a higher likelihood of undergoing surgery or enhanced stereopsis compared to those who did not use them.
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Esotropia , Estrabismo , Acomodação Ocular , Criança , Esotropia/terapia , Óculos , Humanos , Estudos RetrospectivosRESUMO
PURPOSE: To investigate the angle of deviation in various gaze positions as a risk factor for overcorrection of moderate-angle unilateral trochlear nerve palsies treated with two-muscle surgery. METHODS: The medical records of consecutive patients with presumed unilateral moderate-angle trochlear nerve palsy who underwent two-muscle surgery were retrospectively reviewed. Patients with overcorrection, defined as reversal of hyperdeviation by prism alternate cover testing at distance (straight ahead) or near measured at 6 weeks, were compared to non-overcorrected patients for their preoperative torsion and ocular alignment at near and distance. RESULTS: A total of 45 patients (age range, 12-77 years; 24 [53%] males) with deviation ranging from 14Δ to 25Δ in primary position underwent two-muscle surgery, of whom 8 (18%) experienced surgical overcorrection by 6 weeks' follow-up. The preoperative angle of deviation was similar between overcorrected and non-overcorrected patients for eight of nine cardinal distance positions and near gaze; however, patients with smaller deviations in ipsilateral gaze were more likely to be overcorrected with two-muscle surgery (8.5 vs 16.0 [P = 0.029]). Cut point analysis determined that an ipsilateral gaze of ≤9Δ was significantly associated with overcorrection. Greater lateral incomitance also trended toward overcorrection (15.0 vs 9.0 [P = 0.059]). Torsion was not a clinically significant indicator of overcorrection (3.5 vs 6 [P = 0.083]). CONCLUSIONS: A preoperative ipsilateral angle of ≤9Δ was associated with overcorrection in patients undergoing two-muscle surgery for moderate angle unilateral trochlear nerve palsies.
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Estrabismo , Doenças do Nervo Troclear , Adolescente , Adulto , Idoso , Criança , Humanos , Masculino , Pessoa de Meia-Idade , Músculos Oculomotores/cirurgia , Procedimentos Cirúrgicos Oftalmológicos , Paralisia , Estudos Retrospectivos , Fatores de Risco , Estrabismo/cirurgia , Resultado do Tratamento , Doenças do Nervo Troclear/complicações , Doenças do Nervo Troclear/cirurgia , Visão Binocular , Adulto JovemRESUMO
PURPOSE: To determine whether age at surgery is associated with surgical outcome of intermittent exotropia (IXT) at 3 years. DESIGN: Secondary analysis of pooled data from a randomized trial. METHODS: A total of 197 children 3 to <11 years of age with basic-type IXT of 15-40 prism diopters (Δ) were randomly assigned to 1 of 2 surgical procedures for treatment of intermittent exotropia. Masked examinations were conducted every 6 months for 3 years. The primary outcome was suboptimal surgical outcome by 3 years, defined as constant or intermittent exotropia of ≥10 Δ at distance or near by simultaneous prism and cover test (SPCT); constant esotropia of ≥6 Δ at distance or near by SPCT; or decrease in near stereoacuity of ≥2 octaves, at any masked examination; or reoperation without meeting any of these criteria. RESULTS: The cumulative probability of a suboptimal surgical outcome by 3 years was 28% (19 of 72) for children 3 to <5 years of age, compared with 50% (57 of 125) for children 5 to <11 years of age (adjusted hazard ratio = 2.05; 95% confidence interval = 1.16 to 3.60). No statistically significant associations were found between suboptimal outcome and other baseline factors (magnitude of deviation, control score, fixation preference, or near stereoacuity) (P values ≥ .20). CONCLUSIONS: This analysis suggests that in children with IXT, younger age at surgery (3 to <5 years) is associated with better surgical outcomes; however, further evidence from a randomized trial comparing immediate with delayed surgery is needed for confirmation.
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Exotropia/cirurgia , Fatores Etários , Criança , Pré-Escolar , Exotropia/fisiopatologia , Feminino , Seguimentos , Humanos , Masculino , Cuidados Pós-Operatórios , Estudos Prospectivos , Resultado do Tratamento , Acuidade Visual/fisiologiaRESUMO
PURPOSE: To report the incidence, demographics, and clinical manifestations of neurofibromatosis type 1 among a population-based cohort of patients. METHODS: The medical records of all patients diagnosed as having neurofibromatosis type 1 while residing in Olmsted County, Minnesota, from January 1, 1980, through December 31, 2009, were retrospectively reviewed. RESULTS: Fifty patients were diagnosed as having neurofibromatosis type 1 during the 30-year period, yielding an incidence of 1.2 per 100,000 individuals. The mean age at diagnosis was 11.7 years (95% confidence interval [CI]: 0.2 to 47) and 26 (52%) were males. Twenty-eight patients were new mutations, yielding a de novo mutation rate of 56%. During a mean follow-up of 9.8 years (range: 3 weeks to 32 years), café-au-lait macules were diagnosed in 49 individuals (98%), neurofibromas in 26 (52%), and skeletal anomalies in 14 (28%). Three (5.9%) individuals were diagnosed as having glioma of the central nervous system (95% CI: 1.2 to 9.7%) at a mean age of 13 years (range: 5 to 26 years), including 1 patient with optic nerve glioma diagnosed at the age of 26 years. Only 1 (2%) patient was diagnosed as having malignant nerve sheath tumor. CONCLUSIONS: Although the prevalence and de novo mutation rate of neurofibromatosis type 1 in this population-based study were similar to prior reports, the occurrence of optic nerve gliomas was much lower. [J Pediatr Ophthalmol Strabismus. 2019;56(4):243-247.].
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Previsões , Neurofibromatose 1/epidemiologia , Vigilância da População , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Incidência , Lactente , Masculino , Pessoa de Meia-Idade , Minnesota/epidemiologia , Neurofibromatose 1/diagnóstico , Prevalência , Estudos Retrospectivos , Adulto JovemRESUMO
PURPOSE: To describe the incidence and clinical characteristics of upper and lower eyelid retraction in children. METHODS: The medical records of all pediatric patients (<19 years of age) diagnosed with upper and/or lower eyelid retraction from January 1, 1976, through December 31, 2010, were retrospectively reviewed. RESULTS: A total of 85 patients were diagnosed during the 35-year period, of whom 15 were residents of Olmsted County, Minnesota, yielding an annual age- and sex-adjusted annual incidence of 1.38 per 100,000 persons (95% CI, 0.70-2.05), or 1 in 72,463. Upper eyelid retraction was documented in 38 patients (45%; 24 unilateral and 14 bilateral); lower, in 25 (29%; 12 unilateral and 13 bilateral); and both upper and lower in 18 (21%; 3 unilateral and 15 bilateral). It was not recorded in 4 patients. The most common causes of eyelid retraction were thyroid eye disease (48 [56%]), primary congenital eyelid retraction (11 [13%]), and trauma (9 [11%]). Although there were no cases of visual impairment secondary to eyelid retraction, tearing, ocular surface irritation, and photophobia were noted in 38 patients (45%). Nineteen patients (22%) underwent surgical eyelid correction. CONCLUSIONS: Pediatric eyelid retraction is relatively rare, occurring in approximately 1 in 72,000. The leading causes of childhood eyelid retraction in this cohort were thyroid eye disease, primary congenital eyelid retraction, and trauma. No visual disturbances due to eyelid retraction were noted, and approximately 1 in 5 patients required corrective eyelid surgery.
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Doenças Palpebrais/epidemiologia , Pálpebras/diagnóstico por imagem , Adolescente , Criança , Pré-Escolar , Doenças Palpebrais/diagnóstico , Feminino , Seguimentos , Humanos , Incidência , Lactente , Recém-Nascido , Masculino , Minnesota/epidemiologia , Estudos RetrospectivosRESUMO
The authors describe three children who developed excess overhanging upper eyelid tissue following unilateral levator resection for congenital ptosis. This was thought to be pre-aponeurotic fat herniation. A second procedure, a variation of sulcoplasty, was performed at a mean 4.3 months later and all three children showed improved sulcus and crease symmetry. [J Pediatr Ophthalmol Strabismus. 2019;56:e1-e4.].
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Tecido Adiposo , Blefaroplastia/efeitos adversos , Blefaroptose/cirurgia , Doenças Palpebrais/etiologia , Músculos Oculomotores/cirurgia , Complicações Pós-Operatórias , Aponeurose , Blefaroptose/congênito , Criança , Pré-Escolar , Doenças Palpebrais/cirurgia , Feminino , Humanos , Masculino , Prolapso , Reoperação , Estudos RetrospectivosRESUMO
PURPOSE: To report the incidence, demographics, and ocular findings of children with myasthenia. DESIGN: Retrospective cohort study. METHODS: The medical records of all children (<19 years) examined at Mayo Clinic with any form of myasthenia from January 1 1966, through December 31, 2015, were retrospectively reviewed. RESULTS: A total of 364 children were evaluated during the study period, of which 6 children were residents of the Olmsted County at the time of their diagnosis, yielding an annual age- and sex-adjusted incidence of 0.35 per 100 000 <19 years, or 1 in 285 714 <19 years. The incidence of juvenile myasthenia gravis (JMG) and congenital myasthenic syndrome (CMS) was 0.12 and 0.23 per 100 000, respectively. Of the 364 study children, 217 (59.6%) had JMG, 141 (38.7%) had CMS, and 6 (1.7%) had Lambert-Eaton syndrome, diagnosed at a median age of 13.5, 5.1, and 12.6 years, respectively. A majority of the JMG and CMS patients had ocular involvement (90.3% and 85.1%, respectively), including ptosis and ocular movement deficits. Among children with at least 1 year of follow-up (JMG; median, 7.1 years, CMS; median, 7.0 years), improvement was seen in 88.8% of JMG patients (complete remission in 31.3%) and in 58.3% of CMS patients. CONCLUSION: Although relatively rare, myasthenia gravis in children has 2 predominant forms, CMS and JMG, both of which commonly have ocular involvement. Improvement is more likely in children with the juvenile form.
Assuntos
Miastenia Gravis/diagnóstico , Miastenia Gravis/epidemiologia , Adolescente , Idade de Início , Autoanticorpos/sangue , Criança , Pré-Escolar , Progressão da Doença , Eletromiografia , Feminino , Humanos , Incidência , Lactente , Recém-Nascido , Masculino , Minnesota/epidemiologia , Músculos Oculomotores/patologia , Receptores Colinérgicos/imunologia , Estudos RetrospectivosRESUMO
PURPOSE: To describe the course of intermittent exotropia (IXT) in children followed up without treatment for 3 years. DESIGN: Observation arm from randomized trial of short-term occlusion versus observation. PARTICIPANTS: One hundred eighty-three children 3 to 10 years of age with previously untreated IXT and 400 seconds of arc (arcsec) or better near stereoacuity. METHODS: Participants were to receive no treatment unless deterioration criteria were met at a follow-up visit occurring at 3 months, 6 months, or 6-month intervals thereafter for 3 years. MAIN OUTCOME MEASURES: The primary outcome was deterioration by 3 years, defined as meeting motor criterion (constant exotropia ≥10 prism diopters [Δ] at distance and near) or near stereoacuity criterion (≥2-octave decrease from best previous measure). For the primary analysis, participants also were considered to have deteriorated if treatment was prescribed without meeting either deterioration criterion. RESULTS: The cumulative probability of protocol-specified deterioration by 3 years was 15% (95% confidence interval, 10%-22%), but that was likely an overestimate, partly because of misclassification. Among 25 deteriorations, 2 met motor deterioration, 11 met stereoacuity deterioration, and 12 started treatment without meeting either criteria (7 for social concern, 1 for diplopia, 4 for other reasons). Among the 132 participants who completed the 3-year visit and had not been treated during the study, only 1 (<1%) met motor or stereoacuity deterioration criteria at 3 years. Of the 4 participants completing the 3-year visit who met deterioration criteria previously and had not started treatment, none still met deterioration criteria. Between the baseline and 3-year examination for these 132 patients, improvement occurred in distance and near stereoacuity (mean improvement, 0.14 and 0.14 logarithm of arcsec; P ≤ 0.001 and P ≤ 0.001, respectively), distance exotropia control (mean improvement, 0.6 points; P ≤ 0.001), and distance exodeviation magnitude (mean improvement, 2.2 Δ; P = 0.002). CONCLUSIONS: Among children 3 to 10 years of age with IXT for whom surgery was not considered to be the immediately necessary treatment, stereoacuity deterioration or progression to constant exotropia over 3 years was uncommon, and exotropia control, stereoacuity, and magnitude of deviation remained stable or improved slightly.
Assuntos
Percepção de Profundidade/fisiologia , Exotropia/fisiopatologia , Acuidade Visual/fisiologia , Bandagens , Criança , Pré-Escolar , Exotropia/terapia , Feminino , Seguimentos , Humanos , Masculino , Privação Sensorial , Fatores de Tempo , Testes VisuaisRESUMO
PURPOSE: To report the incidence, clinical findings, and surgical outcomes of periocular dermoid cysts diagnosed among children over a 20-year period. METHODS: All patients ≤5 years of age, who were diagnosed with a periocular dermoid cyst in Olmsted County, Minnesota from 1986 to 2005 were reviewed to determine the population incidence, clinical presentation, and management outcomes. RESULTS: A total of 54 children were diagnosed with a periocular dermoid cyst during the 20-year period, yielding a birth incidence of 1 in 638 live births. The mean age at diagnosis was 12 months (range, 1 month-60 months) and 29 (53.7%) were female. A total of 44 cysts (81.5%) occurred in the superotemporal orbital rim, 6 (11.1%) in the superonasal orbital rim, 3 (5.6%) in other periocular areas, and one (1.9%) within the orbit. A total of 34 (63%) children had an ophthalmic exam, all without amblyopia or other ocular sequelae. A total of 48 (88.9%) patients underwent surgical excision with 5 (10.4%) having documented intra-operative cyst rupture, none of whom had post-operative complications. Two (4.2%) other patients were, however, noted to have lesion recurrence following surgical intervention. CONCLUSIONS: Periocular dermoid cysts occur in approximately 1 in 650 live births and most commonly occur in the superotemporal region of children aged 1 year or less. Ocular sequelae are rare and surgical excision often yields excellent results.