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  • 1
    In: American Journal of Medical Genetics Part A, Wiley, Vol. 188, No. 2 ( 2022-02), p. 569-578
    Abstract: 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.
    Type of Medium: Online Resource
    ISSN: 1552-4825 , 1552-4833
    URL: Issue
    Language: English
    Publisher: Wiley
    Publication Date: 2022
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  • 2
    In: Biology of Blood and Marrow Transplantation, Elsevier BV, Vol. 26, No. 5 ( 2020-05), p. 928-935
    Type of Medium: Online Resource
    ISSN: 1083-8791
    Language: English
    Publisher: Elsevier BV
    Publication Date: 2020
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  • 3
    In: Biology of Blood and Marrow Transplantation, Elsevier BV, Vol. 25, No. 3 ( 2019-03), p. S41-S42
    Type of Medium: Online Resource
    ISSN: 1083-8791
    Language: English
    Publisher: Elsevier BV
    Publication Date: 2019
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  • 4
    In: JAMA Ophthalmology, American Medical Association (AMA), Vol. 140, No. 10 ( 2022-10-01), p. 982-
    Abstract: 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.
    Type of Medium: Online Resource
    ISSN: 2168-6165
    Language: English
    Publisher: American Medical Association (AMA)
    Publication Date: 2022
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  • 5
    In: Journal of Neuro-Ophthalmology, Ovid Technologies (Wolters Kluwer Health), Vol. 42, No. 1 ( 2022-03), p. e99-e108
    Abstract: 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.
    Type of Medium: Online Resource
    ISSN: 1070-8022
    Language: English
    Publisher: Ovid Technologies (Wolters Kluwer Health)
    Publication Date: 2022
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  • 6
    In: Neuro-Oncology, Oxford University Press (OUP), Vol. 24, No. Supplement_1 ( 2022-06-03), p. i147-i148
    Abstract: PURPOSE: Visual impairment is a serious adverse effect in children with a brain tumor. To date, visual impairment is often underestimated and unrecognized, while early detection of visual impairment is important to potentially preserve the visual function. Our aim was to assess the prevalence and type of abnormal ophthalmological findings in an unselected cohort of children with a newly diagnosed brain tumor and to identify potential oncological and clinical risk factors. PATIENTS AND METHODS: In this prospective nationwide cohort study, we included children, aged 0-18 years, with a newly diagnosed brain tumor in the Netherlands between May 2019 and August 2021. A comprehensive ophthalmological examination (including orthoptic evaluation, visual acuity, visual fields and funduscopy) was performed at diagnosis. Multivariable logistic regression analyses were performed to estimate the odds ratio (OR) and 95% confidence interval (CI) of the risk factors. RESULTS: In total, 170 children were included (43.5% female; median age [interquartile range], 8.3 [3.9 – 13.0] years; 48.2% infratentorial tumors, 31.2% midline tumors and 20.6% cerebral hemispheres tumors). Overall, 101 children (59.4%) presented with visual symptoms at diagnosis. The most common findings on ophthalmological examination were papilledema (52.4%), gaze deficits (33.5%), visual field defects (28.1%), nystagmus (24.8%), strabismus (19.9%) and decreased visual acuity (8.6%). The risk of papilledema was associated with older age in years (OR 1.2, 95% CI 1.1 – 1.3) and hydrocephalus (OR 14.8, 95% CI 5.4 – 40.0). Visual field defects were detected more frequently in children with a tumor located in the cerebral hemisphere (OR 4.5, 95% CI 1.3 – 15.3) or midline (OR 7.0, 95% CI 2.2 – 21.9). CONCLUSIONS: More than 50% of the children had abnormal ophthalmological findings at brain tumor diagnosis. These findings emphasize the necessity of standardized ophthalmological surveillance and the importance of awareness of health care providers of ophthalmological abnormalities in this patient group.
    Type of Medium: Online Resource
    ISSN: 1522-8517 , 1523-5866
    Language: English
    Publisher: Oxford University Press (OUP)
    Publication Date: 2022
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  • 7
    Online Resource
    Online Resource
    Elsevier BV ; 2022
    In:  The Lancet Rheumatology Vol. 4, No. 6 ( 2022-06), p. e450-
    In: The Lancet Rheumatology, Elsevier BV, Vol. 4, No. 6 ( 2022-06), p. e450-
    Type of Medium: Online Resource
    ISSN: 2665-9913
    Language: English
    Publisher: Elsevier BV
    Publication Date: 2022
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  • 8
    In: Acta Ophthalmologica, Wiley, Vol. 94, No. 7 ( 2016-11), p. 638-645
    Abstract: Visual functions in Sturge–Weber syndrome (SWS) may be impaired by glaucoma, diffuse choroidal haemangioma (DCH) or leptomeningeal angioma. The aim of this study was to gain better insight in the visual deficits of SWS patients. A systematic literature search using PubMed and Embase medical databases was performed to identify articles describing visual acuity (VA) and/or visual field (VF) findings in SWS patients. In addition, a Dutch multicentre cohort with 33 SWS patients was collected and the combined results of VA and VF findings are presented. Visual acuity results of 25 studies and VF results of 12 studies were suitable for data extraction. Description of the combination of both VA and VF findings was scarce. Homonymous hemianopia (HH) was present in 42% of SWS patients. Seventy per cent of eyes had a (near) normal vision, while VA of eyes with glaucoma or DCH was severely impaired in 28% and 67%, respectively. In the Dutch cohort, only 18% (6/33) of patients had (near) normal findings of both visual parameters. In addition, half of the patients with glaucoma suffered from a combination of a HH and VA impairment. In conclusion, although SWS patients are exposed to severe functional visual impairment due to the possible cumulative consequences of glaucoma, DCH and cerebral injury, description of the combination of both VA and VF results is scarce in the literature. Particularly, the combination of visual impairment due to glaucoma or DCH, and HH might be invalidating.
    Type of Medium: Online Resource
    ISSN: 1755-375X , 1755-3768
    URL: Issue
    Language: English
    Publisher: Wiley
    Publication Date: 2016
    detail.hit.zdb_id: 2466981-7
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