Nörofi̇bromatozi̇s Ti̇p 1 Tanili Çocuklarda Desen Görsel Uyarilmiş Potansi̇yelleri̇n Değerlendi̇ri̇lmesi̇ (original) (raw)
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Journal of American Association for Pediatric Ophthalmology and Strabismus, 2006
Background: Screening for optic nerve gliomas (ONGs) in children with neurofibromatosis type 1 (NF1) is problematic. Visual acuity (VA) can be unreliable in children. Magnetic resonance imaging is the most sensitive test for ONG, but it is expensive. This study was designed to determine whether visual-evoked potential testing (VEP) is a sensitive and cost-effective screening test for ONG in NF1 in children. Methods: We undertook a retrospective review of patients with NF1 at a tertiary care eye center that were born between 1983 and 2003. VA was considered abnormal if 20/40 or worse or more than 2 lines difference between eyes. VEP was abnormal if the P100 was Ͼ108 ms (ms) or the interocular difference was greater than 5.0 ms. Results: Of 297 patients found with NF1, 144 were children and 30 had VEP and MRI. Of those, 14 had ONG and 16 did not. The average P100 of the VEP was 110.5 ms in patients with ONG compared with 103.1 ms (p ϭ 0.004) in those without ONG. VEP was 86% sensitive and 75% specific in detecting ONG. VA was 50% sensitive and 50% specific. Six patients with ONG had normal vision and abnormal VEP. Two subjects had initial abnormal VEP but normal MRI and showed ONG on follow-up imaging. One subject with ONG had a normal VEP initially but subsequent VEP was abnormal. Conclusion: Using serial VEPs, the sensitivity is 93%. Cost of VEP and MRI is 150and150 and 150and1750, respectively. VEP is a sensitive and cost-effective screening test for ONG in NF1. VEP may assist in earlier diagnoses of ONG, especially in children with equivocal or difficult ophthalmic examinations.
Documenta Ophthalmologica, 2013
Objective The aim of this study is to investigate the role of pattern reversal visual evoked potentials (pVEPs) in the screening and monitoring of optic pathway gliomas (OPGs) in children with and without neurofibromatosis type 1. Methods A review of the English literature published between 1980 and 2012 was performed, with comparison of results of retro-and prospective studies. Results Pattern reversal VEPs have a high sensitivity (85.7-100 %) for the diagnosis of OPGs, moreover they are safe and cost-effective. Conversely, they have a low specificity (43-83 %) and are not widely available. Besides, pattern reversal VEP results can be unreliable in young children, because of the need for a good cooperation. The studies that were analyzed have drawbacks, including the small sample size, the retrospective design, the differences in gold standard for diagnosis, the different interpretation of small changes in VEP results and the lack of control groups. Conclusion There is still debate about the gold standard for the screening and follow-up of OPGs. The added value of pVEPs to the ophthalmic examination is controversial. Randomized controlled trials or prospective multicentre studies are necessary to assess with sufficient accuracy the sensitivity and specificity of pattern reversal VEPs in the screening for OPGs and its follow-up.
Optic pathway gliomas in neurofibromatosis type 1: The effect of presenting symptoms on outcome
American Journal of Medical Genetics, 2003
Children with neurofibromatosis type 1 (NF1) may present with optic pathway gliomas (OPG) that can progress to visual loss or other neurologic symptoms. These tumors may become evident either as a result of patient signs or symptoms or as an incidental finding on ''baseline'' neuroimaging studies. In an attempt to determine if there were differences between symptomatic and asymptomatic children with OPG, a retrospective cohort study of ninety children with NF1 and OPG was performed using data from two large NF1 referral centers. Age at diagnosis, presenting symptoms, tumor location, associated features, and clinical response were assessed for children who were initially symptomatic from their OPG (n ¼ 51) and compared to similar data of asymptomatic children whose tumors were incidentally discovered by MRI (n ¼ 39). There were no differences in age at presentation, tumor location, NF1-associated symptoms, or clinical response between the groups. Initially symptomatic children were much more likely to require treatment (OR: 14.8, 95% CI [1.9-116.7]) than those with incidentally discovered, asymptomatic OPG. Although 36% of OPG were diagnosed in children over the age of 6 years, none received prior neuroimaging and only two children had previously normal eye examinations, suggesting that the vast majority of OPG in this group were longstanding, undiagnosed tumors. Based on these findings, we do not advocate ''baseline'' MRI in children with NF1, but strongly recommend that all children of the age 10 years and younger with NF1 have complete annual ophthalmologic evaluations.
Visual evoked potentials in children with neurofibromatosis type 1
Documenta ophthalmologica. Advances in ophthalmology, 2002
The purposes of this investigation were to determine: (a) if visual evoked potential (VEP) abnormalities could be identified in children with neurofibromatosis type 1 (NF1) with no evidence of optic pathway or brain neoplasias on MRI; and (b) if VEP abnormalities could be explained by the presence of hyperintense T2-weighted foci on MRI testing, known as unidentified bright objects (UBOs). To answer these questions, VEPs were recorded from 16 children with NF1 and compared to 13 normal subjects in the same age range tested with the same protocol. Pattern-reversal VEPs were recorded at four stimulus sizes both monocularly and binocularly, the latter to hemi-field stimuli. Flash VEPs were recorded in dark- and light-adapted conditions. VEP measurements and MRI readings for UBOs were conducted in a masked fashion. Ten of the 16 children with NF1 had abnormal VEPs to at least one of the four types of stimuli. Abnormalities included delayed responses (n=6), absent flash VEP P2 component ...
Optic Gliomas in Neurofibromatosis Type 1
Journal of Pediatric Ophthalmology & Strabismus, 2016
To examine the incidence, presentation, and outcome of optic gliomas in children with neurofibromatosis type 1 (NF1) in Southern California Kaiser Permanente. Methods: The authors queried the Southern California Kaiser Permanente electronic medical record database to find patients diagnosed as having NF1. Genetics, ophthalmology, and imaging medical records of patients with optic glioma were reviewed. Results: A total of 708 patients younger than 21 years had a diagnosis of NF1 in Southern California Kaiser Permanente and 30 (4.2%) had a diagnosis of optic glioma. The average age of diagnosis was 5 years, with a range of 18 months to 12 years. Half (15 of 30) of the patients diagnosed as having optic glioma presented with symptoms (eg, vision loss, proptosis, and precocious puberty). Eight of 15 of the symptomatic patients were treated with surgery and/or chemotherapy. Symptomatic children were diagnosed later than those diagnosed through routine screening (5.7 vs 3.9 years old). The oldest child presented with symptoms at age 12 years. One asymptomatic patient had prophylactic chemotherapy. Sixty-three percent (19 of 30) of the gliomas were bilateral, 23% (7 of 30) were right-sided, and 13% (4 of 30) were left-sided. Fifty-three percent (17 of 30) of the gliomas involved the optic chiasm. Conclusions: Screening practices for optic glioma are inconsistent. Most children with NF1 at risk for optic glioma do not have even one visit with an ophthalmologist. Children with NF1 can develop asymptomatic optic glioma as early as age 1 year. Annual ophthalmologic examination and screening for precocious puberty in children with NF1 is important for early diagnosis of optic gliomas and may reduce morbidity.
Neuro-Oncology, 2007
We evaluated the visual outcome of a cohort of children with neurofibromatosis type 1 (NF1) and optic pathway glioma (OPG) treated according to standardized therapeutic guidelines. The study population consisted of all consecutive patients with NF1 and OPG referred to a specialized pediatric neuro-oncology program between 1994 and 2004. Treatment was instituted only in cases of progressive disease or clinical deterioration. Treatment modalities were chemotherapy (based on vincristine/ carboplatin) for children younger than 5 years and radiotherapy for all others. Ten boys and 10 girls (seven with a positive family history) entered the trial (median age at diagnosis of OPG, 29 months). At a median follow-up time of 78 months, seven patients had been treated with chemotherapy only, four with radiotherapy, and four with chemotherapy plus radiotherapy. Five patients were observed only. Currently, 18 are alive and two have died. Eight patients were treated for progressive visual loss in the face of stable disease, five for tumor volume increase without visual deterioration, and two for symptomatic tumor volume increase. At referral, six ). children had a visual acuity (VA) of , 30% in both eyes; eight children had 100% VA bilaterally. At referral, the visual field (VF) could be assessed in three children: One had VF loss in both eyes, one had VF loss in one eye, and one had normal VF. At last follow-up, eight children had VA , 20% in both eyes; only two children had 100% VA in both eyes. Among 11 children who had some visual function, three had VF loss in one eye and three in both eyes, and five had an intact VF. Contrast and color sensitivity were abnormal in seven and six patients, respectively. Thirteen children fell into the WHO hypovision category. In summary, among the 15 children treated, one had a definitive and two a mild improvement in VA. In conclusion, the visual outcome of this selected cohort of NF1 patients with OPG is unsatisfactory. A critical reappraisal of the therapeutic strategy adopted is needed.
Functional outcome measures for NF1-associated optic pathway glioma clinical trials
Neurology, 2013
Objective: The goal of the Response Evaluation in Neurofibromatosis and Schwannomatosis Visual Outcomes Committee is to define the best functional outcome measures for future neurofibromatosis type 1 (NF1)-associated optic pathway glioma (OPG) clinical trials. Methods: The committee considered the components of vision, other ophthalmologic parameters affected by OPG, potential biomarkers of visual function, and quality of life measures to arrive at consensus-based, evidence-driven recommendations for objective and measurable functional endpoints for OPG trials. Results: Visual acuity (VA) assessments using consistent quantitative testing methods are recommended as the main functional outcome measure for NF1-OPG clinical trials. Teller acuity cards are recommended for use as the primary VA endpoint, and HOTV as a secondary endpoint once subjects are old enough to complete it. The optic disc should be assessed for pallor, as this appears to be a contributory variable that may affect the interpretation of VA change over time. Given the importance of capturing patient-reported outcomes in clinical trials, evaluating visual quality of life using the Children's Visual Function Questionnaire as a secondary endpoint is also proposed. Conclusions: The use of these key functional endpoints will be essential for evaluating the efficacy of future OPG clinical trials. Neurology ® 2013;81 (Suppl 1):S15-S24 GLOSSARY CVFQ 5 Children's Visual Function Questionnaire; logMAR 5 logarithm of the minimum angle of resolution; MS 5 multiple sclerosis; NF1 5 neurofibromatosis type 1; OCT 5 optical coherence tomography; OPG 5 optic pathway glioma; PFS 5 progression-free survival; QOL 5 quality of life; REiNS 5 Response Evaluation in Neurofibromatosis and Schwannomatosis; RNFL 5 retinal nerve fiber layer; TAC 5 Teller acuity cards; VA 5 visual acuity; VEP 5 visual evoked potential; VF 5 visual field.