RESUMO
There are a number of diseases that can compromise with the vision of an individual. For example, there are diseases that directly affect the movement of eyelids, in turn, affecting vision. Ptosis is one such disease that affects the functionality of the muscles that control the movement of the eyelids or their nerve supply. Consequently, an upper eyelid of the individual naturally droops or falls hindering the vision of the individual.
Assuntos
Blefaroptose , Humanos , Blefaroptose/diagnóstico , Pálpebras , Músculos Oculomotores/fisiopatologiaRESUMO
IMPORTANCE: Identifying pediatric eye diseases at an early stage is a worldwide issue. Traditional screening procedures depend on hospitals and ophthalmologists, which are expensive and time-consuming. Using artificial intelligence (AI) to assess children's eye conditions from mobile photographs could facilitate convenient and early identification of eye disorders in a home setting. OBJECTIVE: To develop an AI model to identify myopia, strabismus, and ptosis using mobile photographs. DESIGN, SETTING, AND PARTICIPANTS: This cross-sectional study was conducted at the Department of Ophthalmology of Shanghai Ninth People's Hospital from October 1, 2022, to September 30, 2023, and included children who were diagnosed with myopia, strabismus, or ptosis. MAIN OUTCOMES AND MEASURES: A deep learning-based model was developed to identify myopia, strabismus, and ptosis. The performance of the model was assessed using sensitivity, specificity, accuracy, the area under the curve (AUC), positive predictive values (PPV), negative predictive values (NPV), positive likelihood ratios (P-LR), negative likelihood ratios (N-LR), and the F1-score. GradCAM++ was utilized to visually and analytically assess the impact of each region on the model. A sex subgroup analysis and an age subgroup analysis were performed to validate the model's generalizability. RESULTS: A total of 1419 images obtained from 476 patients (225 female [47.27%]; 299 [62.82%] aged between 6 and 12 years) were used to build the model. Among them, 946 monocular images were used to identify myopia and ptosis, and 473 binocular images were used to identify strabismus. The model demonstrated good sensitivity in detecting myopia (0.84 [95% CI, 0.82-0.87]), strabismus (0.73 [95% CI, 0.70-0.77]), and ptosis (0.85 [95% CI, 0.82-0.87]). The model showed comparable performance in identifying eye disorders in both female and male children during sex subgroup analysis. There were differences in identifying eye disorders among different age subgroups. CONCLUSIONS AND RELEVANCE: In this cross-sectional study, the AI model demonstrated strong performance in accurately identifying myopia, strabismus, and ptosis using only smartphone images. These results suggest that such a model could facilitate the early detection of pediatric eye diseases in a convenient manner at home.
Assuntos
Inteligência Artificial , Diagnóstico Precoce , Fotografação , Humanos , Feminino , Masculino , Estudos Transversais , Criança , Pré-Escolar , Fotografação/métodos , Miopia/diagnóstico , Aprendizado Profundo , Estrabismo/diagnóstico , Blefaroptose/diagnóstico , Sensibilidade e Especificidade , China/epidemiologia , Oftalmopatias/diagnóstico , AdolescenteRESUMO
PURPOSE: To evaluate the histopathologic findings of Levator palpebralis superioris (LPS) muscle biopsy after LPS resection for treatment of congenital ptosis and its possible relation with surgical outcomes.Please confirm if the author names are presented accurately and in the correct sequence (given name, middle name/initial, family name). Author 4 Given name: [Seyed Mohsen] Last name [Rafizadeh]. Author 6 Given name: [Seyed Ali] Last name [Sonbolestan].Also, kindly confirm the details in the metadata are correct.The author names and the sequence are correct. METHODS: Congenital ptosis patients were enrolled in this retrospective study. All of them underwent full ophthalmologic examination included of Margin-reflex distance 1 (MRD-1) and LPS function measurement preoperatively. The patients were followed for 3 months for the postoperative period and after that the measurements were repeated. Histologic parameters including percentages of fat, striated and smooth muscle, and fibrous tissue. The histopathologic findings and their possible correlation with the measurements are analyzed. RESULTS: Sixty-seven patients with unilateral congenital ptosis were enrolled. 45 patients (67.2%) were males. The mean age of patients was 16.10 ± 11.18 years. The patients' MRD-1 was improved significantly from 0.82 ± 1.26 mm to 3.85 ± 1.25 mm after LPS resection (P = 0.000). The success rate was 80.3%. There were no correlations between MRD change and histopathologic tissue percentages but significant correlation was found between success of surgery and fibrous tissue percentage of resected sample (P = 0.033). CONCLUSIONS: The histopathology of the LPS may be useful in prediction of surgical outcome after LPS resection in congenital ptosis patients. The percentage of fibrous tissue play an important role.
Assuntos
Blefaroplastia , Blefaroptose , Músculos Oculomotores , Humanos , Blefaroptose/cirurgia , Blefaroptose/congênito , Blefaroptose/diagnóstico , Masculino , Músculos Oculomotores/cirurgia , Músculos Oculomotores/patologia , Feminino , Estudos Retrospectivos , Criança , Adolescente , Blefaroplastia/métodos , Pré-Escolar , Adulto , Adulto Jovem , Pálpebras/cirurgia , Pálpebras/patologia , Biópsia , Seguimentos , Resultado do TratamentoRESUMO
BACKGROUND: To compare the epithelial thickness map of ptotic eyes of blepharoptosis patients with contralateral non- ptotic eyes. METHODS: Unilateral blepharoptosis patients were enrolled consecutively. Patients were underwent full ophthalmologic examination and their demographic data such as age and gender and specific ptosis findings e.g. the cause and duration, MRD-1, and levator palpebralis superioris function were registered. Anterior segment imaging for epithelial thickness measurements was done using the Avanti RTVue-XR platform. The corneal epithelial thickness maps of ptotic and non-ptotic eyes were compared. RESULTS: 44 patients with unilateral blepharoptosis were included in the study. 27 (61.4%) of them were female and 17 (38.6%) cases were male. The mean of the patients' ages was 24.40 ± 15.16 years. Ptotic eyes had significantly thinner superior (p = 0.000), superior-temporal (p = 0.000) and superior-nasal (p = 0.005) sectors of the cornea and slightly thicker corneal epithelium (CE) in the inferior-nasal sector. The correlation of difference of superior-inferior CE was evaluated with different parameters including patient's age (p = 0.457), type of blepharoptosis (p = 0.786), duration of blepharoptosis (p = 0.477) and MRD1 (p = 0.248), but no correlation was found. CONCLUSIONS: This study revealed that lid position in blepharoptosis may have effects on the corneal epithelial thickness map. Because of the lower position of upper eyelid, a thinning effect on superior corneal sectors may happen.
Assuntos
Blefaroptose , Epitélio Corneano , Humanos , Blefaroptose/diagnóstico , Feminino , Masculino , Adulto , Epitélio Corneano/patologia , Epitélio Corneano/diagnóstico por imagem , Adulto Jovem , Adolescente , Pessoa de Meia-Idade , Criança , Pré-Escolar , IdosoRESUMO
PURPOSE: To analyze the effect of congenital ptosis on corneal topography and total aberrometry and to compare these variables between ptotic and normal fellow eyes. METHODS: The study included 32 eyes of 16 patients with unilateral congenital blepharoptosis. A Shack-Hartmann wavefront sensor was employed to assess Zernike coefficients and root-mean-square. Computerized corneal topography, Orbscan and aberrometry were measured in the healthy and ptotic eyes. Data were analyzed using SPSS version 16. P<0.05 was considered significant. RESULTS: The mean patient age was 21.31±6.3 years. The mean margin to light reflex distance-1 (MRD-1) was 0.6±1.44mm in the ptotic eyes. Among topography variables, surface regularity index (SRI), cylinder power, irregular astigmatism index (IAI), and flat meridian keratometry were significantly different between ptotic and non-ptotic fellow eyes (P<0.05). Some Orbscan parameters, including simulated keratometry, maximum and minimum corneal power, and astigmatism power were significantly different between ptotic and normal fellow eyes (P<0.05). There was no statistically significant difference in total aberrometry variables between paired eyes. However, in a comparison between ptotic eyes with over 1 diopter astigmatism vs. less than 1 D, high-order Zernike modes without spherical aberration at 6mm (HOW/O Z400 6mm) were significantly different between the 2 groups (P=0.02). CONCLUSION: Unilateral congenital ptosis significantly affects corneal topography and aberrometry, especially in eyes with astigmatism≥1 D. Such differences need to be considered before keratorefractive surgery (KRS).
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Aberrometria , Astigmatismo , Blefaroptose , Córnea , Topografia da Córnea , Humanos , Topografia da Córnea/métodos , Aberrometria/métodos , Masculino , Feminino , Blefaroptose/congênito , Blefaroptose/diagnóstico , Adulto Jovem , Adulto , Adolescente , Córnea/patologia , Córnea/diagnóstico por imagem , Córnea/anormalidades , Astigmatismo/diagnósticoRESUMO
We describe the first case reported in ophthalmological literature of the surgical management of a 17-month-old boy with bilateral vision-threatening ptosis, tarsomegaly, ectropion, and euryblepharon secondary to suspected overgrowth syndrome. We elaborate on the major challenges associated with surgical management including the natural and asymmetric growth of oversized tissue, the high likelihood of scarring and formation of disorganized tissue, and risks of frequent intubation in these patients who may have lesions that compromise critical structures such as the airway. Ultimately, surgical intervention is encouraged primarily if vision or ocular health is threatened and secondarily to achieve good cosmesis.
Assuntos
Blefaroptose , Humanos , Masculino , Blefaroptose/cirurgia , Blefaroptose/diagnóstico , Blefaroptose/etiologia , Lactente , Procedimentos Cirúrgicos Oftalmológicos/métodos , Pálpebras/cirurgia , Pálpebras/anormalidades , Síndrome , Músculos Oculomotores/cirurgiaRESUMO
PURPOSE: Myasthenia is a rare disease in children, with an estimated incidence of 1 to 5 per million children. However, the potential severity of its consequences and the existence of specific treatments require prompt diagnosis by pediatric ophthalmologists. METHODS: Retrospective review of patient records. Patients were identified from a rare disease database. Patients under the age of 18 years with confirmed diagnosis of myasthenia and ocular symptoms seen in a specialized clinic between 2005 and 2021 were included. RESULTS: Twenty-six (16 girls) with confirmed myasthenia and ocular symptoms were included. Ten patients had definite autoimmune myasthenia gravis (AIMG); 6 had suspected AIMG with negative antibody testing. Six patients had definite congenital myasthenic syndrome (CMS); 4 had suspected CMS with no evidence of mutation. Mean age at diagnosis of myasthenia was 5 years-3 years and 5 months for CMS and 6 years and 3 months for AIMG. Male to female (M:F) ratio was 6/10 for autoimmune myasthenia gravis and 4/6 for CMS. Ptosis was present in all cases; strabismus in 21 patients (68%). The clinical forms of myasthenia were ocular myasthenia in 12 patients (10 AIMG and 2 CMS), generalized in 12 patients (7 CMS and 5 AIMG) and secondary generalization of ocular myasthenia in 2 patients (2 AIMG). DISCUSSION: These results are based on only 26 cases, which can be explained by the rarity of this diagnosis in children. As in adults, the first signs are often ophthalmologic - ptosis alone or associated with strabismus. Diagnosis is difficult because of the absence of clinical signs, laboratory tests or electrophysiological signs with high sensitivity. Thus, the work-up may remain completely negative in secondarily proven forms. In addition, electroneuromyograms and oculomotor recordings in small children are more difficult to perform than in adults. For these reasons, the clinical examination is essential. In the case of strong suspicion, all additional medical examinations are carried out in a day unit, in order to reach a positive diagnosis of myasthenia. The so-called "congenital" forms, which are genetic, are proportionately higher than in adults, and diagnosis and treatment are often more difficult than in the classic autoimmune forms. CONCLUSION: Myasthenia can affect children from a very young age and can present as ptosis, initially isolated or associated with strabismus. Diagnosis and treatment may be difficult and should be organized in specialized centers.
Assuntos
Blefaroptose , Miastenia Gravis , Síndromes Miastênicas Congênitas , Humanos , Masculino , Feminino , Criança , Pré-Escolar , Miastenia Gravis/diagnóstico , Miastenia Gravis/complicações , Miastenia Gravis/epidemiologia , Estudos Retrospectivos , Síndromes Miastênicas Congênitas/diagnóstico , Síndromes Miastênicas Congênitas/complicações , Adolescente , Blefaroptose/etiologia , Blefaroptose/diagnóstico , Lactente , Estrabismo/diagnóstico , Estrabismo/etiologia , Estrabismo/epidemiologiaRESUMO
Neuronal intranuclear inclusion disease (NIID) exhibits diverse clinical manifestations. Our patient was a 64-year-old woman with bilateral ptosis as the chief complaint. She had bilateral miosis, and the pupil was only slightly dilated 60 min after 1% phenylephrine administration, suggesting autonomic dysfunction secondary to preganglionic sympathetic impairment. A head-up tilt test revealed asymptomatic orthostatic hypotension. She was diagnosed with NIID based on a skin biopsy and genetic testing. This study suggests that blepharoptosis is an early manifestation of NIID. Furthermore, patients with suspected NIID should be examined carefully for autonomic dysfunction.
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Doenças do Sistema Nervoso Autônomo , Blefaroptose , Doenças Neurodegenerativas , Feminino , Humanos , Pessoa de Meia-Idade , Blefaroptose/diagnóstico , Blefaroptose/etiologia , Biópsia , Testes Genéticos , Corpos de Inclusão IntranuclearRESUMO
Lamb-Shaffer syndrome (LSS) is a rare neurodevelopmental disorder, genetically diagnosed in fewer than 100 individuals worldwide. We present a case series of 6 pediatric patients with LSS and describe its ophthalmic manifestations. Strabismus was present in 5 patients, with exotropia being most common. All subjects had significant refractive errors; 5 had astigmatism of at least 2 D. All patients had optic nerve abnormalities, including pallor (4), hypoplasia (2), and anomalous appearance (1), with retinal nerve fiber layer thinning demonstrated in a single subject. Other ophthalmic disorders detected were ptosis (1), nasolacrimal duct obstruction (1), and nystagmus (2).
Assuntos
Estrabismo , Humanos , Masculino , Feminino , Pré-Escolar , Criança , Lactente , Estrabismo/diagnóstico , Nervo Óptico/anormalidades , Nervo Óptico/diagnóstico por imagem , Blefaroptose/diagnóstico , Obstrução dos Ductos Lacrimais/diagnóstico , Obstrução dos Ductos Lacrimais/congênito , Erros de Refração/diagnóstico , Erros de Refração/fisiopatologia , Astigmatismo/diagnóstico , Astigmatismo/fisiopatologia , Adolescente , Nistagmo Patológico/diagnóstico , Exotropia/diagnóstico , Exotropia/fisiopatologia , Exotropia/genéticaRESUMO
INTRODUCTION: BRPF1 gene on 3p26-p25 encodes a protein involved in epigenetic regulation, through interaction with histone H3 lysine acetyltransferases KAT6A and KAT6B of the MYST family. Heterozygous pathogenic variants in BRPF1 gene are associated with Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis (IDDDFP), characterized by global developmental delay, intellectual disability, language delay, and dysmorphic facial features. The reported ocular involvement includes strabismus, amblyopia, and refraction errors. This report describes a novel ocular finding in patients affected by variants in the BRPF1 gene. METHODS: We performed exome sequencing and deep ocular phenotyping in two unrelated patients (P1, P2) with mild intellectual disability, ptosis, and typical facies. RESULTS: Interestingly, P1 had a Chiari Malformation type I and a subclinical optic neuropathy, which could not be explained by variations in other genes. Having detected a peculiar ocular phenotype in P1, we suggested optical coherence tomography (OCT) for P2; such an exam also detected bilateral subclinical optic neuropathy in this case. DISCUSSION: To date, only a few patients with BRPF1 variants have been described, and none were reported to have optic neuropathy. Since subclinical optic nerve alterations can go easily undetected, our experience highlights the importance of a more detailed ophthalmologic evaluation in patients with BRPF1 variant.
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Fenótipo , Humanos , Masculino , Feminino , Deficiência Intelectual/genética , Deficiência Intelectual/patologia , Deficiência Intelectual/diagnóstico , Criança , Mutação , Pré-Escolar , Sequenciamento do Exoma , Blefaroptose/genética , Blefaroptose/diagnóstico , Proteínas de Ligação a DNA/genética , Tomografia de Coerência Óptica , Proteínas que Contêm Bromodomínio , Proteínas Adaptadoras de Transdução de SinalRESUMO
BACKGROUND AND OBJECTIVES: We developed repetitive ocular vestibular-evoked myogenic potentials (roVEMP) as an electrophysiologic test that allows us to elicit the characteristic decrement of extraocular muscles in patients with ocular myasthenia gravis (OMG). Case-control studies demonstrated that roVEMP reliably differentiates patients with OMG from healthy controls. We now aimed to evaluate the diagnostic accuracy of roVEMP for OMG diagnosis in patients with ptosis and/or diplopia. METHODS: In this blinded prospective diagnostic accuracy trial, we compared roVEMP in 89 consecutive patients presenting with ptosis and/or diplopia suspicious of OMG with a multimodal diagnostic approach, including clinical examination, antibodies, edrophonium testing, repetitive nerve stimulation of accessory and facial nerves, and single-fiber EMG (SFEMG). We calculated the roVEMP decrement as the ratio between the mean of the first 2 responses compared with the mean of the sixth-ninth responses in the train and used cutoff of >9% (unilateral decrement) in a 30 Hz stimulation paradigm. RESULTS: Following a complete diagnostic work-up, 39 patients (44%) were diagnosed with ocular MG, while 50 patients (56%) had various other neuro-ophthalmologic conditions, but not MG (non-MG). roVEMP yielded 88.2% sensitivity, 30.2% specificity, 50% positive predictive value (PPV), and 76.5% negative predictive value (NPV). For comparison, SFEMG resulted in 75% sensitivity, 56% specificity, 55.1% PPV, and 75.7% NPV. All other diagnostic tests (except for the ice pack test) also yielded significantly higher positive results in patients with MG compared with non-MG. DISCUSSION: The study revealed a high sensitivity of 88.2% for roVEMP in OMG, but specificity and PPV were too low to allow for the OMG diagnosis as a single test. Thus, differentiating ocular MG from other neuro-ophthalmologic conditions remains challenging, and the highest diagnostic accuracy is still obtained by a multimodal approach. In this study, roVEMP can complement the diagnostic armamentarium for the diagnosis of MG. CLASSIFICATION OF EVIDENCE: This study provides Class I evidence that in patients with diplopia and ptosis, roVEMP alone does not accurately distinguish MG from non-MG disorders. TRIAL REGISTRATION INFORMATION: ClinicalTrials.gov: NCT03049956.
Assuntos
Blefaroptose , Diplopia , Miastenia Gravis , Potenciais Evocados Miogênicos Vestibulares , Humanos , Miastenia Gravis/diagnóstico , Miastenia Gravis/fisiopatologia , Miastenia Gravis/complicações , Masculino , Feminino , Diplopia/diagnóstico , Diplopia/fisiopatologia , Diplopia/etiologia , Pessoa de Meia-Idade , Potenciais Evocados Miogênicos Vestibulares/fisiologia , Adulto , Blefaroptose/diagnóstico , Blefaroptose/fisiopatologia , Blefaroptose/etiologia , Idoso , Estudos Prospectivos , Eletromiografia/métodos , Sensibilidade e Especificidade , Músculos Oculomotores/fisiopatologia , Adulto JovemRESUMO
We report 2 cases of pediatric ocular myasthenia gravis. The first case was a 7-year-old girl who presented with bilateral ophthalmoplegia and ptosis that correlated with the onset of upper respiratory symptoms. Neuroimaging and acetylcholine receptor antibody testing were unremarkable. The ice pack test was positive. Symptoms greatly improved with pyridostigmine, with full resolution of ophthalmoplegia achieved by 8-month follow-up. The second case was a 4-year-old girl who presented emergently with ptosis and bilateral ophthalmoplegia. Acetylcholine receptor antibodies testing was positive. The patient was started on pyridostigmine and intravenous immunoglobulin and is scheduled to follow-up with pediatric ophthalmology in the outpatient setting.
Assuntos
Blefaroptose , Miastenia Gravis , Oftalmoplegia , Feminino , Criança , Humanos , Pré-Escolar , Brometo de Piridostigmina/uso terapêutico , Miastenia Gravis/complicações , Miastenia Gravis/diagnóstico , Blefaroptose/diagnóstico , Blefaroptose/etiologia , Oftalmoplegia/diagnóstico , Oftalmoplegia/etiologia , Receptores Colinérgicos , AutoanticorposAssuntos
Blefaroptose , Cefaleia , Síndrome de Tolosa-Hunt , Humanos , Síndrome de Tolosa-Hunt/diagnóstico , Síndrome de Tolosa-Hunt/complicações , Blefaroptose/etiologia , Blefaroptose/diagnóstico , Cefaleia/etiologia , Cefaleia/diagnóstico , Criança , Imageamento por Ressonância Magnética , Masculino , FemininoRESUMO
PURPOSE: To determine the degree of static eyelid asymmetry required to be perceptible and whether this is affected by image inversion. METHODS: Images of 3 volunteers were digitally manipulated to have eyelid asymmetry of 0.5 mm, 1 mm, or 1.5 mm of 3 different types, upper lid ptosis, upper lid retraction, and lower lid retraction. Forty-nine laypersons stated whether the images were symmetrical or asymmetrical. A separate inversion survey, completed by 29 clinicians, consisted of symmetrical images and 1 mm asymmetrical images, with half being inverted. RESULTS: Upper lid ptosis, upper lid retraction, and lower lid retraction were not detected by most laypeople at 0.5 mm of severity (18.9%, 6.7%, 18.9% detection, respectively) but all 3 were detected by the majority of participants once asymmetry reached 1 mm severity (65.7%, 61.8%, 51.0% detection, respectively) and rose to over 70% identification at 1.5 mm (92.2%, 73.5%, 73.5% detection, respectively). Inversion of the images led to 19.7% lower rates of correct identification of asymmetrical faces compared with images presented in the correct orientation (80.7% asymmetry identified in normal images, 61.0% inverted, p < 0.001). CONCLUSIONS: All asymmetries were detectable by a majority of laypersons at a severity of 1 mm. Image inversion decreases a clinician's ability to detect a 1 mm asymmetry, indicating an impaired asymmetry perception in the intraoperative view. This study provides research to counsel patients with varying degrees of eyelid asymmetry.
Assuntos
Pálpebras , Humanos , Projetos Piloto , Feminino , Masculino , Estudos Transversais , Adulto , Pessoa de Meia-Idade , Blefaroptose/diagnóstico , Blefaroptose/cirurgia , Blefaroptose/fisiopatologia , Adulto Jovem , Doenças Palpebrais/diagnóstico , Doenças Palpebrais/fisiopatologia , Assimetria Facial/diagnóstico , IdosoRESUMO
We report a patient with isolated ptosis secondary to orbital metastasis but no evidence of a neoplastic process on magnetic resonance imaging (MRI). A 69-year-old male was referred to our hospital with ptosis of the right upper eyelid and secondary frontalis muscle overaction on the left side for six months. The palpebral fissure was 3mm on the right and 16mm on the left, and levator function was 6mm and 19mm respectively. Three years previously, he had undergone surgical resection of the left lower lobe of the lung due to a T1 N0 M0 adenocarcinoma, and no recurrence had since been observed. An MRI was performed to rule out ptosis secondary to metastasis. Thyroid dysfunction and myasthenia were also ruled out. The ptosis was attributed to an isolated microvascular third nerve palsy. A standard external levator advancement was performed. Six months after the surgery, the patient presented with intense pain, minimal ptosis, edema and diplopia. A new MRI revealed an orbital metastasis measuring 2.4×1.0×1.6cm in the superior orbit, exerting mass effect on the superior rectus and the levator palpebrae superioris muscle. A positron emission tomography scan revealed a recurrence of the lung cancer with multiple bony metastases. The patient underwent chemotherapy consisting of the taxol-carboplatin protocol. Our report highlights the importance of a high index of suspicion of a neoplastic etiology in patients with mild symptoms and a history of cancer even if imaging does not initially reveal a mass or infiltration.
Assuntos
Blefaroptose , Idoso , Humanos , Masculino , Blefaroptose/diagnóstico , Pálpebras , Imageamento por Ressonância Magnética , Músculos Oculomotores/diagnóstico por imagem , Músculos Oculomotores/cirurgia , ÓrbitaRESUMO
INTRODUCTION: Congenital Central Hypoventilation Syndrome (CCHS) is a rare disease due to a severely impaired central control of breathing and dysfunction of the autonomic nervous system. Ophthalmologic abnormalities are common in patients with CCHS and include horizontal strabismus, pupil and iris abnormalities and ptosis. We report a unique case of CCHS in association with monocular elevation deficit (MED) in a boy diagnosed with CCHS at birth. CASE DESCRIPTION: We report a case of a boy with a confirmed diagnosis of CCHS (complete sequencing of the paired-like homeobox 2b (PHOX2B) gene) after presenting little respiratory effort and cyanosis at birth. The ophthalmological examination shows an impaired elevation of the left eye, both in adduction and abduction, associated with mild and variable left ptosis. His mother has observed that the left eyelid elevates when the child feeds. A deviation in the primary gaze position or a chin-up position are not present. The funduscopic examination is normal. Given that deviation is limited to upgaze, the ptosis is mild and the patient's age, observation is decided. CONCLUSIONS: Ophthalmologic abnormalities are common in patients with CCHS and include horizontal strabismus, pupil and iris abnormalities and ptosis. To the best of our knowledge, this is the first report of MED in association with CCHS. Further studies are needed to determine if an association between MED and CCHS exists or is just a casual finding in this case.
Assuntos
Blefaroptose , Hipoventilação , Hipoventilação/congênito , Apneia do Sono Tipo Central , Humanos , Masculino , Hipoventilação/diagnóstico , Hipoventilação/genética , Hipoventilação/fisiopatologia , Blefaroptose/diagnóstico , Blefaroptose/congênito , Blefaroptose/fisiopatologia , Apneia do Sono Tipo Central/diagnóstico , Apneia do Sono Tipo Central/fisiopatologia , Apneia do Sono Tipo Central/genética , Proteínas de Homeodomínio/genética , Recém-Nascido , Fatores de Transcrição/genética , Estrabismo/diagnóstico , Estrabismo/fisiopatologiaRESUMO
PURPOSE: This retrospective cohort study aimed to identify obstetric risk factors for simple congenital ptosis and propose an underlying pathophysiological mechanism. METHODS: Newborns diagnosed with simple congenital ptosis (n = 51) were compared with existing population data in terms of obstetric parameters. RESULTS: Positive associations were found between simple congenital ptosis and gestational diabetes mellitus (11.8% vs. 5%, p = 0.026), preterm delivery (15.7% vs. 0.05%, p < 0.001), and lower birth weight (2,998 ± 506 vs. 3,255 ± 484, p < 0.001). CONCLUSIONS: This study pioneers an association between simple congenital ptosis and gestational diabetes mellitus, potentially linked to insulin-like growth factor 1 levels. We advocate for early ophthalmology checkups for specific newborn subsets.
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Blefaroptose , Diabetes Gestacional , Humanos , Diabetes Gestacional/diagnóstico , Diabetes Gestacional/epidemiologia , Gravidez , Blefaroptose/congênito , Blefaroptose/diagnóstico , Feminino , Estudos Retrospectivos , Recém-Nascido , Fatores de Risco , Masculino , Peso ao Nascer , Adulto , Nascimento Prematuro , Fator de Crescimento Insulin-Like IRESUMO
PURPOSE: To report the method to assess belpahroptosis and its reliability of adult ptosis using video consultation. METHODS: This is a retrospective, comparative, case series. The surgical waiting list for ptosis surgery between 8/2020 and 1/2021 was checked and only cases listed for surgery via video consultation assessment, without any previous face-to-face consultation, were included. The following data were collected for patients who underwent video consultation before surgery: Demographic data, level of experience of clinician, levator function, Cogan's twitch sign, fatigability test, eye motility, presence of lagophthalmos, clinical history to rule out Myasthenia Gravis, other myopathies or Horner syndrome, whether the surgery was performed or canceled, reason for cancellation, date of surgery, type of procedure and surgeon experience. RESULTS: A total of 176 patients underwent ptosis surgery. From those, 45 patients (25.6%) had only video assessment prior to surgery, 36 patients (80%) eventually underwent ptosis surgery. Surgery was canceled in 20% of the cases: in 2 cases (4.44%) due to misdiagnosis of ptosis during video consultation, confirmed on the day of surgery during pre-surgical face-to-face assessment; the other 7 cases (15.55%) belpharoptosis was confirmed on face-to-face examination but the surgery was canceled due to other reasons. The diagnosis of ptosis assessment via video consultation was corrected in 43 cases (95%) (p_value = 0.156, chi_ square). The accuracy of ptosis diagnosis was 13 out of 15 (86.7%) by fellow assessments and 30 out of 30 (100%) by consultant assessments (p_value = 0.041, chi_ square). In most of the cases ptosis assessment in video consultation included: rough judgment of levator function, eye motility and checking signs of lagophthalmos. CONCLUSIONS: Video consultation is an efficient and reliable way to assess patients with ptosis, with 95% of reliability. Although a thorough ptosis assessment is advised, there was no difference between the accuracy of diagnosis on those who did not have the full suggested assessment.
Assuntos
Blefaroptose , Lagoftalmia , Telemedicina , Adulto , Humanos , Blefaroptose/diagnóstico , Blefaroptose/cirurgia , Reprodutibilidade dos Testes , Estudos RetrospectivosRESUMO
A woman in her early 70s with a history of coronary artery disease, hypertension, and colon polyps presented to oculoplastic surgery with 1 week of progressive right-sided proptosis, headache, right eyelid ptosis, and blurry vision. Outside magnetic resonance imaging demonstrated an infiltrative mass involving right greater than left orbital apices, the right optic nerve, and right extraocular muscles. What would you do next?
Assuntos
Blefaroptose , Exoftalmia , Feminino , Humanos , Idoso , Exoftalmia/diagnóstico , Blefaroptose/diagnóstico , Blefaroptose/etiologia , Transtornos da Visão/diagnósticoRESUMO
PURPOSE: To examine the long-term effect of combined blepharoplasty and Müller muscle-conjunctival resection (MMCR) compared to an upper blepharoplasty procedure on dry eye syndrome. METHODS: This is a Prospective comparative case series. Two groups of patients participated in this study: the blepharoplasty group included adult patients that underwent blepharoplasty at least 3 years earlier and the ptosis group consisting of adult patients that underwent MMCR with blepharoplasty at least 3 years earlier. The parameters that were compared for all patients before the procedure, on postoperative day 90, and at the long-term follow-up were: Schirmer-test 2, tear break-up time (TBUT), fluorescein staining, and lissamine green (LG) staining. RESULTS: The participants included 25 post-MMCR patients with a mean follow-up of 4.94 ± 0.64 years and 15 post-blepharoplasty patients with a mean follow-up of 4.22 ± 0.32 years. There was a significant increase in the postoperative LG and fluorescein staining scores compared to the preoperative scores in the ptosis group (p < .01 and p < .01, respectively) as well as a decrease in postoperative TBUT compared to the preoperative values (p = .044). Those parameters were not significant in the blepharoplasty group. CONCLUSIONS: Patients who underwent MMCR, but not those following upper blepharoplasty, showed signs of dry eye compared to the preoperative status after long-term follow-up. Dry eye signs should be examined before MMCR surgery, and patients should be aware of the high risk of developing dry eye and the need for long-term treatment. Surgeons should carefully consider performing MMCR for patients with severe dry eye.