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BACKGROUND: While large language models (LLMs) are increasingly used in medicine, their effectiveness compared with human experts remains unclear. This study evaluates the quality and empathy of Expert + AI, human experts, and LLM responses in neuro-ophthalmology. METHODS: This randomized, masked, multicenter cross-sectional study was conducted from June to July 2023. We randomly assigned 21 neuro-ophthalmology questions to 13 experts. Each expert provided an answer and then edited a ChatGPT-4-generated response, timing both tasks. In addition, 5 LLMs (ChatGPT-3.5, ChatGPT-4, Claude 2, Bing, Bard) generated responses. Anonymized and randomized responses from Expert + AI, human experts, and LLMs were evaluated by the remaining 12 experts. The main outcome was the mean score for quality and empathy, rated on a 1-5 scale. RESULTS: Significant differences existed between response types for both quality and empathy (P < 0.0001, P < 0.0001). For quality, Expert + AI (4.16 ± 0.81) performed the best, followed by GPT-4 (4.04 ± 0.92), GPT-3.5 (3.99 ± 0.87), Claude (3.6 ± 1.09), Expert (3.56 ± 1.01), Bard (3.5 ± 1.15), and Bing (3.04 ± 1.12). For empathy, Expert + AI (3.63 ± 0.87) had the highest score, followed by GPT-4 (3.6 ± 0.88), Bard (3.54 ± 0.89), GPT-3.5 (3.5 ± 0.83), Bing (3.27 ± 1.03), Expert (3.26 ± 1.08), and Claude (3.11 ± 0.78). For quality (P < 0.0001) and empathy (P = 0.002), Expert + AI performed better than Expert. Time taken for expert-created and expert-edited LLM responses was similar (P = 0.75). CONCLUSIONS: Expert-edited LLM responses had the highest expert-determined ratings of quality and empathy warranting further exploration of their potential benefits in clinical settings.
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BACKGROUND: To evaluate the therapeutic effect of temporal slant recession of the inferior rectus muscle (TSRIRM) for the treatment of small vertical deviations in patients with vertical diplopia, with consideration of the theoretical additive effects of this procedure on ocular torsion and horizontal incomitance. METHODS: Retrospective review of 11 patients who were treated with TSRIRM. Eight patients with vertical diplopia and small hyperdeviations (up to 6 prism diopters (PDs)) were treated with isolated TSRIRMs. Three patients with vertical diplopia from unilateral superior oblique palsies with large hyperdeviations (>15 PDs) were treated with TSRIRMs in conjunction with contralateral inferior oblique recessions. RESULTS: Six of the 8 patients with small vertical deviations had successful vertical realignment with elimination of symptomatic diplopia after an isolated TSRIRM. Two of the eight patients had residual hypertropia with symptomatic diplopia. Three additional patients with unilateral superior oblique palsy had successful vertical realignment with elimination of symptomatic diplopia after ipsilateral inferior oblique recession and contralateral TSRIRM. In total, 9 of 11 patients had successful surgical results after TSRIRM. CONCLUSIONS: TSRIRM provides an effective and reliable treatment for small angle vertical strabismus. Its ease of surgical access renders it useful for implementation in an outpatient neuro-ophthalmology setting.
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Diplopia , Estrabismo , Humanos , Diplopia/etiologia , Diplopia/cirurgia , Resultado do Tratamento , Músculos Oculomotores/cirurgia , Movimentos Oculares , Estrabismo/etiologia , Estrabismo/cirurgia , Procedimentos Cirúrgicos Oftalmológicos/métodos , Estudos RetrospectivosRESUMO
BACKGROUND: Accurate diagnosis of efferent visual system disease in neuro-ophthalmology involves the classification of clinical signs as prenuclear, nuclear, or infranuclear in origin. Over many years, I have come to recognize ocular torsional instability as a clinical sign of prenuclear disease. METHODS: Retrospective chart review of patients in whom ocular torsional instability was diagnosed using indirect ophthalmoscopy. RESULTS: Twenty patients were diagnosed as having ocular torsional instability (OTI). Eight had neuro-ophthalmologic disease caused by structural injury to prenuclear ocular motor areas. Six of these had structural lesions primarily involving the cerebellum, one had a midbrain glioma, and one had traumatic encephalomalacia. Eight additional patients had infantile strabismus (esotropia in 7, exotropia in 1) associated with various combinations of monocular nasotemporal optokinetic asymmetry, latent nystagmus, and dissociated vertical divergence (DVD), indicating prenuclear involvement of subcortical visuovestibular pathways within the brain. Three additional patients presented with intermittent exotropia with DVD signifying early onset, while 2 had acquired esotropia that was noninfantile in origin. One had partially accommodative esotropia with bilateral inferior oblique overaction, and one presented with acquired esotropia followed by spontaneous secondary exotropia. CONCLUSIONS: OTI provides a useful clinical sign of prenuclear ocular motor dysfunction. When detected in patients without any signs of infantile or early-onset strabismus, OTI signifies the need for neuroimaging to rule out neurovestibular or cerebellar causes of prenuclear disease.
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Esotropia , Exotropia , Nistagmo Patológico , Estrabismo , Humanos , Exotropia/complicações , Estudos Retrospectivos , Nistagmo Patológico/diagnóstico , Nistagmo Patológico/etiologia , Músculos OculomotoresRESUMO
BACKGROUND: Interprofessional electronic consultation (eConsult) is a telemedicine modality in which consulting providers review outside records and provide recommendations without in-person consultation. The purpose of this study was to describe the utilization of eConsults in the management of neuro-ophthalmic conditions. METHODS: Retrospective cohort study of all patients who received an eConsult for a neuro-ophthalmic condition at a single quaternary referral center from 2018 to 2020. Main outcome measures included proportion of eConsults in which sufficient data were provided to the neuro-ophthalmologist to generate a definitive management decision, proportion of patients for whom an in-person neuro-ophthalmology evaluation was recommended, and the eConsult's impact on patient care. RESULTS: Eighty eConsults were conducted on 78 patients during the 3-year study period. Forty-eight (60.0%) subjects were female, mean age was 54 years, and 65 (81.3%) were White. The median time from eConsult request to completion was 4 days (range: 0-34 days). The most frequent eConsult questions were vision/visual field disturbances in 28 (35.0%) cases, optic neuropathies in 22 (27.5%), and optic disc edema in 17 (21.3%). At the time of eConsult, sufficient prior information was provided in 35 (43.8%) cases for the neuro-ophthalmologist to provide a definitive management decision. In 45 (56.3%) eConsults, further diagnostic testing was recommended. In-person neuro-ophthalmology consultation was recommended in 24 (30.0%) cases. Sixty-one (76.3%) eConsults provided diagnostic and/or treatment direction, and 12 (15.0%) provided reassurance. CONCLUSION: eConsults increase access to timely neuro-ophthalmic care and provide diagnostic and treatment direction to non-neuro-ophthalmology providers when sufficient information is provided at the time of eConsult.
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Doenças do Nervo Óptico , Consulta Remota , Telemedicina , Humanos , Feminino , Pessoa de Meia-Idade , Masculino , Estudos Retrospectivos , Atenção Primária à Saúde , Doenças do Nervo Óptico/diagnóstico , Doenças do Nervo Óptico/terapiaRESUMO
BACKGROUND: To determine whether the vestibular-ocular reflexes (VORs) can be affected by central nervous system injury in children with cortical visual impairment (CVI). METHODS: Retrospective case series. Twenty consecutive children with CVI who presented to a pediatric ophthalmology practice over an 18-month period were included in the study. Horizontal and vertical VORs were assessed by a pediatric neuro-ophthalmologist using the standard doll's head maneuver. MRI studies were independently reviewed by a pediatric neuroradiologist in a masked fashion. The main outcome measures were the integrity of the VORs and the presence of brainstem abnormalities on MRI. RESULTS: VORs were found to be absent or severely impaired in 13/20 (65%) children with CVI. More surprisingly, the doll's head maneuver failed to substantially overcome the deviated eye position in 8/13 (62%) children with conjugate gaze deviations. Reduced brainstem size and signal abnormalities were found in 4/7 children with normal VORs and in 9/13 children with abnormal VORs (P = 0.6), showing noncorrelation with the integrity of the VOR. CONCLUSION: VORs are commonly impaired in children with CVI. This ocular motor deficit reflects the diffuse cortical and subcortical injury that often accompanies perinatal injury to the developing brain. Consequently, these children may lack important visual compensatory mechanisms to stabilize gaze during head movements. This knowledge can help in planning visual rehabilitation.
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Movimentos da Cabeça , Reflexo Vestíbulo-Ocular , Criança , Movimentos Oculares , Movimentos da Cabeça/fisiologia , Humanos , Reflexo Vestíbulo-Ocular/fisiologia , Estudos Retrospectivos , Transtornos da VisãoRESUMO
Over the past 50 years, our understanding of optic nerve hypoplasia has advanced in a series of waves, with each wave producing a paradigm shift in clinical diagnosis and management. First was the recognition that optic nerve hypoplasia is a condition distinct from optic atrophy and is a frequent cause of blindness in children. Second was the identification of associated brain malformations. Third was the realization that many children with optic nerve hypoplasia have hypopituitarism. Fourth was the identification of segmental forms of optic nerve hypoplasia. Fifth was the recognition that some children are at risk for sudden death, which can often be prevented with preemptive measures. Last was the identification of additional systemic accompaniments. Genetic studies have been largely unfruitful and, for most cases, the cause remains unknown.
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Hipopituitarismo , Hipoplasia do Nervo Óptico , Cegueira , Criança , Humanos , Mentores , Nervo ÓpticoRESUMO
This vignette describes a diagnostic telephone consultation with Bill Hoyt regarding a 65-year-old man who was found to have an unusual vascular pattern overlying the left optic disc. Bill recognized and characterized this condition as prepapillary arterial convolutions, a congenital vascular anomaly that has never entered the scientific literature. Close inspection disclosed evidence of mild vascular derangement in the contralateral eye as well. The cause of this condition remains unknown.
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Disco Óptico , Artéria Retiniana , Idoso , Humanos , Masculino , Encaminhamento e Consulta , TelefoneRESUMO
A 4-year-old girl with maxillary hypoplasia, intermittent exotropia, and high myopia displayed congenital oculonasal synkinesis. We examine the implications for pathogenesis of these disparate craniofacial findings.
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Piscadela/fisiologia , Nariz/anormalidades , Músculos Oculomotores/fisiopatologia , Sincinesia/congênito , Pré-Escolar , Feminino , Humanos , Sincinesia/diagnóstico , Sincinesia/fisiopatologiaRESUMO
Clinical diagnosis has been supplemented by neuroimaging advances, genetic discoveries, and molecular research to generate new neurobiological discoveries pertaining to early maldevelopment of ocular motor control systems. In this focused review, I examine recent paradigm shifts that have transformed our understanding of pediatric ocular motor disease at the prenuclear and infranuclear levels. The pathogenesis of complex ocular motor disorders, such as paradoxical pupillary constriction to darkness, benign tonic upgaze of infancy, congenital fibrosis syndrome, and the constellation of unique eye movements that accompany Joubert syndrome, are elucidated.
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Músculos Oculomotores/inervação , Doenças do Nervo Oculomotor/diagnóstico , Estrabismo/diagnóstico , Criança , Movimentos Oculares/fisiologia , Humanos , Lactente , Imageamento por Ressonância Magnética , Transtornos da Motilidade Ocular/diagnóstico , Transtornos da Motilidade Ocular/fisiopatologia , Doenças do Nervo Oculomotor/fisiopatologia , Oftalmologia , Estrabismo/fisiopatologiaRESUMO
Idiopathic congenital nystagmus is characterized by involuntary, periodic, predominantly horizontal oscillations of both eyes. We identified 22 mutations in FRMD7 in 26 families with X-linked idiopathic congenital nystagmus. Screening of 42 singleton cases of idiopathic congenital nystagmus (28 male, 14 females) yielded three mutations (7%). We found restricted expression of FRMD7 in human embryonic brain and developing neural retina, suggesting a specific role in the control of eye movement and gaze stability.
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Proteínas do Citoesqueleto/genética , Genes Ligados ao Cromossomo X , Proteínas de Membrana/genética , Nistagmo Congênito/genética , Encéfalo/embriologia , Encéfalo/metabolismo , Mapeamento Cromossômico , Cromossomos Humanos X , Proteínas do Citoesqueleto/fisiologia , Movimentos Oculares/genética , Movimentos Oculares/fisiologia , Feminino , Regulação da Expressão Gênica no Desenvolvimento , Ligação Genética , Humanos , Masculino , Proteínas de Membrana/fisiologia , Mutação/fisiologia , Linhagem , Retina/metabolismoRESUMO
The vertebrate basic helix-loop-helix (bHLH) transcription factor ATOH7 (Math5) is specifically expressed in the embryonic neural retina and is required for the genesis of retinal ganglion cells (RGCs) and optic nerves. In Atoh7 mutant mice, the absence of trophic factors secreted by RGCs prevents the development of the intrinsic retinal vasculature and the regression of fetal blood vessels, causing persistent hyperplasia of the primary vitreous (PHPV). We therefore screened patients with hereditary PHPV, as well as bilateral optic nerve aplasia (ONA) or hypoplasia (ONH), for mutations in ATOH7. We identified a homozygous ATOH7 mutation (N46H) in a large family with an autosomal recessive PHPV disease trait linked to 10q21, and a heterozygous variant (R65G, p.Arg65Gly) in one of five sporadic ONA patients. High-density single-nucleotide polymorphism analysis also revealed a CNTN4 duplication and an OTX2 deletion in the ONA cohort. Functional analysis of ATOH7 bHLH domain substitutions, by electrophoretic mobility shift and luciferase cotransfection assays, revealed that the N46H variant cannot bind DNA or activate transcription, consistent with structural modeling. The N46H variant also failed to rescue RGC development in mouse Atoh7-/- retinal explants. The R65G variant retains all of these activities, similar to wild-type human ATOH7. Our results strongly suggest that autosomal recessive persistent hyperplastic primary vitreous is caused by N46H and is etiologically related to nonsyndromic congenital retinal nonattachment. The R65G allele, however, cannot explain the ONA phenotype. Our study firmly establishes ATOH7 as a retinal disease gene and provides a functional basis to analyze new coding variants.
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Fatores de Transcrição Hélice-Alça-Hélice Básicos/genética , Hiperplasia/genética , Doenças Retinianas/genética , Corpo Vítreo/patologia , Animais , Sequência de Bases , Fatores de Transcrição Hélice-Alça-Hélice Básicos/metabolismo , Cromossomos Humanos Par 10 , Feminino , Genes Recessivos , Sequências Hélice-Alça-Hélice/genética , Humanos , Lactente , Camundongos , Camundongos Mutantes , Dados de Sequência Molecular , Mutação , Proteínas do Tecido Nervoso/genética , Proteínas do Tecido Nervoso/metabolismo , Nervo Óptico/anormalidades , Nervo Óptico/patologia , Técnicas de Cultura de Órgãos/métodos , Linhagem , Doenças Retinianas/patologiaAssuntos
Retinose Pigmentar/diagnóstico , Distrofia Macular Viteliforme/diagnóstico , Arteríolas/patologia , Bestrofinas/genética , Criança , Doenças da Coroide/diagnóstico , Diagnóstico Diferencial , Oftalmopatias Hereditárias/diagnóstico , Feminino , Humanos , Masculino , Mutação de Sentido Incorreto , Artéria Retiniana/patologia , Degeneração Retiniana/diagnóstico , Acuidade Visual/fisiologia , Distrofia Macular Viteliforme/genéticaRESUMO
OBJECTIVE: To assess associations between health-related quality of life (HRQOL) and the decision to perform strabismus surgery for children with intermittent exotropia. DESIGN: Retrospective chart review. PARTICIPANTS: Children with intermittent exotropia. METHODS: Included subjects, identified in a clinical practice, had assessment of HRQOL using the intermittent exotropia questionnaire (IXTQ), comprising child, proxy, and parent components (parent domains: function, psychosocial, and surgery). The IXTQ scores were evaluated for association with surgery, along with standard clinical measures: prism and alternate cover test (PACT), stereoacuity, and control score (mean of the 3 most recent scores). Included data were from preoperative examination (surgical cohort) or from most recent follow-up examination (nonsurgical cohort). Univariate and multivariate logistic regression analyses were performed, and relative risk (RR) ratios were calculated. Spearman rank correlations were calculated to identify highly correlated items. MAIN OUTCOME MEASURES: Association of individual factors with the decision to perform surgery, calculated using RR ratios. RESULTS: One hundred six children with intermittent exotropia (median age, 6 years; range, 2-16 years) were eligible for inclusion. Nineteen (18%) of 106 underwent surgery. Using all available data, the IXTQ proxy score, IXTQ parent function score, IXTQ parent psychosocial score, distance control score, near control score, near PACT, and Randot Preschool stereoacuity (Stereoptical Co, Inc, Chicago, IL) were associated with undergoing surgery (P<0.1). Sixty-nine of 106 patients had complete data on all factors identified in univariate analysis and were included in multivariate analyses. Fourteen (20%) of these 69 patients underwent surgery. In multivariate analyses, poor distance control score (RR, 1.83; 95% confidence interval [CI], 1.25-2.68) and reduced IXTQ parent function score (RR, 0.96; 95% CI, 0.92-0.99) were associated with surgical intervention. Repeat multivariate analyses retaining only 1 of the highly correlated items showed IXTQ proxy, IXTQ parent psychosocial, larger near PACT, and worse near control were also associated with surgery. CONCLUSIONS: After accounting for poorer exodeviation control at distance, reduced parent and proxy HRQOL were associated with undergoing strabismus surgery for childhood intermittent exotropia. Recognizing reduced parental HRQOL may be important, with a possible role for educational or counselling interventions.