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1.
Am J Med Genet A ; 188(2): 569-578, 2022 02.
Artículo en Inglés | MEDLINE | ID: mdl-34773366

RESUMEN

The 22q11.2 deletion syndrome (22q11.2DS) is a multisystem disorder with an estimated prevalence of 1:3000 live births. Manifestations show a marked variability in expression and include speech- and language delay, intellectual disability, and neuropsychiatric disorders. We aim to provide an overview of ocular findings in 22q11.2DS in order to optimize recommendations for ophthalmic screening. We combined results from a systematic literature review with results from a multicenter cross-sectional study of patients with 22q11.2DS who were assessed by an ophthalmologist. Our systematic literature search yielded four articles, describing 270 patients. We included 132 patients in our cross-sectional study (median age 8.9 [range 0-56] years). Most reported ocular findings were retinal vascular tortuosity (32%-78%), posterior embryotoxon (22%-50%), eye lid hooding (20%-67%), strabismus (12%-36%), amblyopia (2%-11%), ptosis (4%-6%), and refractive errors, of which hyperopia (6%-48%) and astigmatism (3%-23%) were most common. Visual acuity was (near) normal in most patients (91%-94%). Refractive errors, strabismus, and amblyopia are treatable conditions that are frequently present in patients with 22q11.2DS and should be corrected at an early stage. Therefore, in 22q11.2DS, we recommend ophthalmic and orthoptic screening at the age of 3 years or at diagnosis, and a low-threshold referral in adults.


Asunto(s)
Síndrome de DiGeorge , Anomalías del Ojo , Discapacidad Intelectual , Adolescente , Adulto , Niño , Preescolar , Estudios Transversales , Síndrome de DiGeorge/complicaciones , Síndrome de DiGeorge/diagnóstico , Síndrome de DiGeorge/epidemiología , Anomalías del Ojo/diagnóstico , Humanos , Lactante , Recién Nacido , Lenguaje , Persona de Mediana Edad , Estudios Multicéntricos como Asunto , Adulto Joven
2.
J Neuroophthalmol ; 42(1): e99-e108, 2022 03 01.
Artículo en Inglés | MEDLINE | ID: mdl-34812765

RESUMEN

BACKGROUND: Children with a brain tumor are prone to develop visual impairment, which to date is often underestimated and unrecognized. Our aim was to assess the prevalence of ophthalmological evaluation and abnormal ophthalmological findings, and investigate whether demographic and tumor-related characteristics are associated with abnormal ophthalmological findings in children presenting with a primary brain tumor. METHODS: Medical records of all 90 children diagnosed with a primary brain tumor between June 2018 and May 2019 and treated at the Princess Máxima Center for Pediatric Oncology, a tertiary referral center in the Netherlands, were retrospectively reviewed. Univariate regression analysis was used to investigate associations between demographic, tumor-related and clinical characteristics, and abnormal ophthalmological findings. RESULTS: Sixty children (34 male [56.7%]; median [range] age, 9.3 [0-16.9] years) underwent ophthalmological evaluation within 6 weeks before or after diagnosis, 11 children (5 male [45.5%]; median [range] age, 5.7 [0.1-17.2] years) were seen more than 6 weeks before or after diagnosis, and 19 children (7 male [36.8%]; median [range] age, 7.2 [1.9-16.6] years) did not receive ophthalmological evaluation within at least 6 months from diagnosis. A total of 19 children (21.1%) presented with visual symptoms as first sign leading to the diagnosis of a brain tumor. Children who presented with visual symptoms (odds ratio [OR], 22.52; 95% confidence interval [CI], 4.90-103.60) and/or hydrocephalus (OR, 3.60; 95% CI, 1.38-9.36) at diagnosis were more often seen for ophthalmological evaluation. The most common abnormal ophthalmological findings were eye movement disorders (66.0%), papilledema (44.1%), and visual field defects (58.1%). Eye movement disorders occurred more frequently in patients with an infratentorial tumor (OR, 4.71; 95% CI, 1.03-21.65). The risk of papilledema was associated with older age (OR, 1.19; 95% CI, 1.05-1.34), hydrocephalus (OR, 9.63; 95% CI, 2.68-34.61), and infratentorial (OR, 9.11; 95% CI, 1.77-46.78) and supratentorial (OR, 13.13; 95% CI, 1.92-89.52) tumors. CONCLUSIONS: In this study, most children with a primary brain tumor underwent ophthalmological evaluation around diagnosis, 21% of the children were not evaluated. The high prevalence of abnormal ophthalmological findings stresses the importance of early standardized ophthalmological evaluation to detect visual impairment and provide timely treatment to potentially prevent permanent visual loss.


Asunto(s)
Neoplasias Encefálicas , Hidrocefalia , Trastornos de la Motilidad Ocular , Papiledema , Baja Visión , Neoplasias Encefálicas/complicaciones , Neoplasias Encefálicas/diagnóstico , Neoplasias Encefálicas/epidemiología , Niño , Preescolar , Femenino , Humanos , Hidrocefalia/complicaciones , Hidrocefalia/diagnóstico , Hidrocefalia/epidemiología , Masculino , Papiledema/diagnóstico , Papiledema/epidemiología , Papiledema/etiología , Estudios Retrospectivos , Trastornos de la Visión/diagnóstico , Trastornos de la Visión/epidemiología , Trastornos de la Visión/etiología
3.
Acta Ophthalmol ; 101(6): 658-669, 2023 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-36924320

RESUMEN

PURPOSE: To estimate the diagnostic accuracy of circumpapillary retinal nerve fibre layer (RNFL) thickness and macular ganglion cell layer-inner plexiform layer (GCL-IPL) thickness measurements to discriminate an abnormal visual function (i.e. abnormal age-based visual acuity and/or visual field defect) in children with a newly diagnosed brain tumour. METHODS: This cross-sectional analysis of a prospective longitudinal nationwide cohort study was conducted at four hospitals in the Netherlands, including the national referral centre for paediatric oncology. Patients aged 0-18 years with a newly diagnosed brain tumour and reliable visual acuity and/or visual field examination and optical coherence tomography were included. Diagnostic accuracy was evaluated with sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV). RESULTS: Of 115 patients included in the study (67 [58.3%] male; median age 10.6 years [range, 0.2-17.8 years]), reliable RNFL thickness and GCL-IPL thickness measurements were available in 92 patients (80.0%) and 84 patients (73.0%), respectively. The sensitivity for detecting an abnormal visual function was 74.5% for average RNFL thickness and 41.7% for average GCL-IPL thickness at a specificity of 44.5% and 82.9%, respectively. The PPV and NPV were 33.0% and 82.6% for the average RNFL thickness and 57.1% and 82.2% for the average GCL-IPL thickness. CONCLUSION: An abnormal visual function was discriminated correctly by using the average RNFL thickness in seven out of ten patients and by using the average GCL-IPL thickness in four out of ten patients. The relatively high NPVs signified that patients with normal average RNFL thickness and average GCL-IPL thickness measurements had a relative high certainty of a normal visual function.


Asunto(s)
Células Ganglionares de la Retina , Tomografía de Coherencia Óptica , Humanos , Masculino , Niño , Femenino , Células Ganglionares de la Retina/patología , Tomografía de Coherencia Óptica/métodos , Estudios Transversales , Estudios Prospectivos , Estudios de Cohortes , Trastornos de la Visión/patología
4.
Front Epidemiol ; 2: 961996, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-38455287

RESUMEN

Objective: To evaluate the prevalence, type and extent of linguistic spin in randomized controlled trials (RCTs) exploring interventions in patients with age-related macular degeneration (AMD), as well as to investigate whether study variables were correlated with linguistic spin. Study design and setting: PubMed was searched from 2011 to 2020 to identify RCTs including patients with AMD. Two authors independently assessed a total of 96 RCTs. Linear regression analyses were performed to investigate whether linguistic spin was correlated with predefined study variables. Results: Linguistic spin was found in 61 of 96 abstracts (63.5%) and in 90 of 96 main texts (93.8%). Use of words pointing out the beneficial effect of a treatment and the use of '(statistically) significant/significance' without reporting a P-value or a 95% confidence interval (CI) were the most frequently identified categories of linguistic spin. Sample size was significantly correlated with the total linguistic spin score (95% CI 0.38-5.23, P = 0.02). Conclusion: A high prevalence and extent of linguistic spin in RCTs about AMD was found. We highlighted the importance of objective reporting and awareness of linguistic spin among ophthalmologists and other readers.

5.
JAMA Ophthalmol ; 140(10): 982-993, 2022 10 01.
Artículo en Inglés | MEDLINE | ID: mdl-36107418

RESUMEN

Importance: Visual impairment is an irreversible adverse effect in individuals who experienced a childhood brain tumor. Ophthalmological evaluation at diagnosis enables early detection of vision loss, decision-making about treatment, and when applicable, the timely use of visual interventions. However, awareness of visual impairment in clinical practice is suboptimal, and adherence to ophthalmological evaluation needs to be improved. Objective: To assess the prevalence and types of abnormal ophthalmological findings in youths with a newly diagnosed brain tumor. Design, Setting, and Participants: In this nationwide, prospective cohort study, youths aged 0 to 18 years with a newly diagnosed brain tumor between May 15, 2019, and August 11, 2021, were consecutively enrolled in 4 hospitals in the Netherlands, including the dedicated tertiary referral center for pediatric oncology care. Exposures: A standardized and comprehensive ophthalmological examination, including orthoptic evaluation, visual acuity testing, visual field examination, and ophthalmoscopy, was performed within 4 weeks from brain tumor diagnosis. Main Outcomes and Measures: The main outcomes were prevalence and types of visual symptoms and abnormal ophthalmological findings at brain tumor diagnosis. Results: Of 170 youths included in the study (96 [56.5%] male; median age, 8.3 years [range, 0.2-17.8 years]), 82 (48.2%) had infratentorial tumors; 53 (31.2%), supratentorial midline tumors; and 35 (20.6%), cerebral hemisphere tumors. A total of 161 patients (94.7%) underwent orthoptic evaluation (67 [41.6%] preoperatively; 94 [58.4%] postoperatively); 152 (89.4%), visual acuity testing (63 [41.4%] preoperatively; 89 [58.6%] postoperatively); 121 (71.2%), visual field examination (49 [40.4%] preoperatively; 72 [59.6%] postoperatively); and 164 (96.5%), ophthalmoscopy (82 [50.0%] preoperatively; 82 [50.0%] postoperatively). Overall, 101 youths (59.4%) presented with visual symptoms at diagnosis. Abnormal findings were found in 134 patients (78.8%) during ophthalmological examination. The most common abnormal findings were papilledema in 86 of 164 patients (52.4%) who underwent ophthalmoscopy, gaze deficits in 54 of 161 (33.5%) who underwent orthoptic evaluation, visual field defects in 32 of 114 (28.1%) with reliable visual field examination, nystagmus in 40 (24.8%) and strabismus in 32 (19.9%) of 161 who underwent orthoptic evaluation, and decreased visual acuity in 13 of 152 (8.6%) with reliable visual acuity testing. Forty-five of 69 youths (65.2%) without visual symptoms at diagnosis had ophthalmological abnormalities on examination. Conclusions and Relevance: The results of this study suggest that there is a high prevalence of abnormal ophthalmological findings in youths at brain tumor diagnosis regardless of the presence of visual symptoms. These findings support the need of standardized ophthalmological examination and the awareness of ophthalmologists and referring oncologists, neurologists, and neurosurgeons for ophthalmological abnormalities in this patient group.


Asunto(s)
Neoplasias Encefálicas , Baja Visión , Niño , Humanos , Adolescente , Masculino , Femenino , Estudios Prospectivos , Pruebas de Visión , Trastornos de la Visión/diagnóstico , Trastornos de la Visión/epidemiología , Campos Visuales , Neoplasias Encefálicas/diagnóstico , Neoplasias Encefálicas/epidemiología
6.
PLoS One ; 16(12): e0261631, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34941930

RESUMEN

PURPOSE: To systematically review the evidence on the diagnostic accuracy and prognostic value of retinal optical coherence tomography (OCT) to detect visual acuity (VA) or visual field (VF) loss in children with a brain tumour. METHODS: PubMed, Embase and Cochrane Library databases were searched from inception to February 2021. We included studies evaluating retinal OCT and standard visual function parameters (VA and or VF) in children with a brain tumour. Two authors independently extracted data from each included study. They also assessed the methodological quality of the studies using the QUADAS-2 or QUIPS tool. The diagnostic accuracy of OCT was evaluated with receiver operating characteristic analysis, sensitivity, specificity, positive predictive value and negative predictive value. The prognostic value of OCT was evaluated with predictive measures (odds ratio). RESULTS: We included five diagnostic studies, with a total of 186 patients, all diagnosed with optic pathway glioma. No prognostic studies were eligible for inclusion. Included studies evaluated either retinal nerve fiber layer (RNFL) thickness or ganglion cell layer-inner plexiform layer (GCL-IPL) thickness. There was considerable heterogeneity between OCT devices, OCT protocols, visual function parameters and threshold values. Sensitivity and specificity for RNFL thickness measurement ranged from 60.0% to 100.0% and 76.6% to 100%, respectively. For GCL-IPL thickness measurement, area under the curve ranged from 0.91 to 0.98 for different diameters. CONCLUSION: The literature regarding the diagnostic accuracy and prognostic value of OCT parameters in children with a brain tumour is scarce. Due to heterogeneity and a considerable risk of bias of included studies, we cannot draw solid conclusions regarding the accuracy of retinal OCT. Future research should investigate the potential of OCT as diagnostic and prognostic tool for the evaluation of the visual function and detection of visual impairment in children with any type of brain tumour.


Asunto(s)
Neoplasias Encefálicas/fisiopatología , Glioma del Nervio Óptico/fisiopatología , Tomografía de Coherencia Óptica , Agudeza Visual , Pruebas del Campo Visual , Neoplasias Encefálicas/complicaciones , Niño , Humanos , Glioma del Nervio Óptico/complicaciones , Pronóstico , Tomografía de Coherencia Óptica/métodos , Pruebas del Campo Visual/métodos
7.
PLoS One ; 15(10): e0240016, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-33002047

RESUMEN

Childhood craniopharyngioma is a rare and slow growing brain tumour, often located in the sellar and suprasellar region. It commonly manifests with visual impairment, increased intracranial pressure and hypothalamic and/or pituitary deficiencies. Visual impairment in childhood adversely affects a child's daily functioning and quality of life. We systematically reviewed the literature to provide an extensive overview of the visual function in children with craniopharyngioma at diagnosis in order to estimate the diversity, magnitude and relevance of the problem of visual impairment. Of the 543 potentially relevant articles, 84 studies met our inclusion criteria. Visual impairment at diagnosis was reported in 1041 of 2071 children (50.3%), decreased visual acuity was reported in 546 of 1321 children (41.3%) and visual field defects were reported in 426 of 1111 children (38.3%). Other ophthalmological findings described were fundoscopic (32.5%) and orthoptic abnormalities (12.5%). Variations in ophthalmological testing methods and ophthalmological definitions precluded a meta-analysis. The results of this review confirm the importance of ophthalmological examination in children with craniopharyngioma at diagnosis in order to detect visual impairment and provide adequate support. Future studies should focus on long-term visual follow-up of childhood craniopharyngioma in response to different treatment strategies to provide insight in risks and ways to prevent further loss of vision.


Asunto(s)
Craneofaringioma/fisiopatología , Neoplasias Hipofisarias/fisiopatología , Visión Ocular , Niño , Craneofaringioma/diagnóstico , Humanos , Neoplasias Hipofisarias/diagnóstico , Riesgo
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