{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T20:12:46Z","timestamp":1787170366452,"version":"build-2736575974"},"reference-count":23,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2003,6,18]],"date-time":"2003-06-18T00:00:00Z","timestamp":1055894400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2003,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>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 \u201cbaseline\u201d 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\u2009=\u200951) and compared to similar data of asymptomatic children whose tumors were incidentally discovered by MRI (n\u2009=\u200939). There were no differences in age at presentation, tumor location, NF1\u2010associated symptoms, or clinical response between the groups. Initially symptomatic children were much more likely to require treatment (OR: 14.8, 95% CI [1.9\u2013116.7]) 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 \u201cbaseline\u201d 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. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20211","type":"journal-article","created":{"date-parts":[[2003,9,2]],"date-time":"2003-09-02T15:30:11Z","timestamp":1062516611000},"page":"95-99","source":"Crossref","is-referenced-by-count":135,"title":["Optic pathway gliomas in neurofibromatosis type 1: The effect of presenting symptoms on outcome"],"prefix":"10.1002","volume":"122A","author":[{"given":"Allison","family":"King","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Listernick","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joel","family":"Charrow","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda","family":"Piersall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David H.","family":"Gutmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2003,6,18]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9394(00)00852-7"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.42.3.679"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004010051161"},{"key":"e_1_2_6_5_1","first-page":"381","volume-title":"Neurofibromatosis: Phenotype, natural history, and pathogenesis","author":"Friedman JM","year":"1999"},{"key":"e_1_2_6_6_1","first-page":"2085","article-title":"Comparative gene expression profile analysis of neurofibromatosis 1\u2010associated and sporadic pilocytic astrocytomas","volume":"62","author":"Gutmann DH","year":"2002","journal-title":"Cancer Res"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(95)70449-3"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0142(19950215)75:4<1051::AID-CNCR2820750423>3.0.CO;2-S"},{"key":"e_1_2_6_9_1","first-page":"308","volume-title":"World Health Organization classification of tumours, International Agency for Reseach on Cancer (IARC). 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Presentation of 31 cases","volume":"9","author":"Pascual\u2010Castroviejo I","year":"1994","journal-title":"Neurologia"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1177\/088307389901400602"},{"key":"e_1_2_6_22_1","first-page":"152","article-title":"Pathologic features of optic nerve and chiasmatic gliomas","volume":"1","author":"Rubenstein LJ","year":"1988","journal-title":"Neurofibromatosis"},{"key":"e_1_2_6_23_1","first-page":"274","article-title":"A diencephalic syndrome of emaciation in infancy and childhood","volume":"26","author":"Russell A","year":"1951","journal-title":"Arch Dis Child"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/PL00007285"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.20211","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20211","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T12:54:54Z","timestamp":1697028894000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.20211"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,6,18]]},"references-count":23,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2003,10]]}},"alternative-id":["10.1002\/ajmg.a.20211"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.20211","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,6,18]]}}}