{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T22:13:32Z","timestamp":1774563212362,"version":"3.50.1"},"reference-count":28,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2016,11,24]],"date-time":"2016-11-24T00:00:00Z","timestamp":1479945600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2017,4]]},"abstract":"<jats:p>The best known caf\u00e9\u2010au\u2010lait syndrome is neurofibromatosis type 1 (<jats:styled-content style=\"fixed-case\">NF1<\/jats:styled-content>). Legius syndrome (<jats:styled-content style=\"fixed-case\">LS<\/jats:styled-content>) is another, rarer syndrome with caf\u00e9\u2010au\u2010lait macules (<jats:styled-content style=\"fixed-case\">CALMs<\/jats:styled-content>). In young patients their clinical picture is often indistinguishable. We investigated the presence of choroidal abnormalities in syndromes with <jats:styled-content style=\"fixed-case\">CALMs<\/jats:styled-content> as a candidate tool for a more efficient diagnosis.<\/jats:p><jats:p>Thirty\u2010four patients with <jats:styled-content style=\"fixed-case\">NF1<\/jats:styled-content> (14 with a truncating mutation, 14 with a non\u2010truncating mutation and 6 with unknown mutation) and 11 patients with <jats:styled-content style=\"fixed-case\">LS<\/jats:styled-content>. All patients underwent an ophthalmological examination. Infrared images were performed.<\/jats:p><jats:p>Choroidal nodules were diagnosed in 65% of the <jats:styled-content style=\"fixed-case\">NF1<\/jats:styled-content> group. About 71% of <jats:styled-content style=\"fixed-case\">NF1<\/jats:styled-content> patients with a truncating mutation and 50% of patients with a non\u2010truncating mutation were found to have nodules. Choroidal nodules were seen in 18% of the <jats:styled-content style=\"fixed-case\">LS<\/jats:styled-content> patients, never more than one nodule\/eye was detected in this group.<\/jats:p><jats:p>Choroidal nodules are more abundantly present in <jats:styled-content style=\"fixed-case\">NF1<\/jats:styled-content> genotypes with truncating mutations. In contrast, the number of choroidal nodules in <jats:styled-content style=\"fixed-case\">LS<\/jats:styled-content> is comparable with their presence in healthy individuals. Especially at an early age, when the clinical picture is incomplete, the detection of choroidal nodules is of diagnostic value, and helps in an appropriate genetic counselling and follow\u2010up. These results support the suggestion to include choroidal nodules to the diagnostic criteria for <jats:styled-content style=\"fixed-case\">NF1<\/jats:styled-content>.<\/jats:p>","DOI":"10.1111\/cge.12873","type":"journal-article","created":{"date-parts":[[2016,9,22]],"date-time":"2016-09-22T14:33:00Z","timestamp":1474554780000},"page":"529-535","source":"Crossref","is-referenced-by-count":21,"title":["Choroidal abnormalities in caf\u00e9\u2010au\u2010lait syndromes: a new differential diagnostic tool?"],"prefix":"10.1111","volume":"91","author":[{"given":"C.","family":"Cassiman","sequence":"first","affiliation":[{"name":"Department of Ophthalmology University Hospitals Leuven  Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Casteels","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology University Hospitals Leuven  Leuven 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