{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T00:47:58Z","timestamp":1772758078541,"version":"3.50.1"},"reference-count":47,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2002,6,10]],"date-time":"2002-06-10T00:00:00Z","timestamp":1023667200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["pathsocjournals.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Pathology"],"published-print":{"date-parts":[[2002,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Individuals affected with the neurofibromatosis 2 (<jats:italic>NF2<\/jats:italic>) cancer predisposition syndrome develop specific ocular lesions. To determine whether these lesions result from altered <jats:italic>NF2<\/jats:italic> gene expression, microdissection and PCR were used to investigate 40 ocular lesions from seven eyes of four <jats:italic>NF2<\/jats:italic> patients for LOH, with markers that flank the <jats:italic>NF2<\/jats:italic> gene on chromosome 22q. <jats:italic>NF2<\/jats:italic> protein (merlin) expression was also evaluated in these lesions, using immunohistochemistry. Retinal hamartoma was observed in all seven eyes, including one with combined pigment epithelial and retinal hamartoma (CPERH). Retinal tufts were present in four eyes (three patients), retinal dysplasia in two eyes (two patients), optic nerve neurofibroma in one eye, iris naevoid hyperplasia in two eyes (two patients) and pseudophakia in all eyes. Markers were informative in three patients (six eyes from three unrelated families). One patient was non\u2010informative due to prolonged decalcification. All retinal and optic nerve, but not iris lesions, demonstrated consistent LOH for the <jats:italic>NF2<\/jats:italic> gene. Merlin was not expressed in the retina, optic nerve, or iris lesions. These results suggest that inactivation of the <jats:italic>NF2<\/jats:italic> gene is associated with the formation of a variety of retinal and optic nerve lesions in <jats:italic>NF2<\/jats:italic> patients. Copyright \u00a9 2002 John Wiley &amp; Sons, Ltd.<\/jats:p>","DOI":"10.1002\/path.1174","type":"journal-article","created":{"date-parts":[[2002,10,6]],"date-time":"2002-10-06T08:04:53Z","timestamp":1033891493000},"page":"14-20","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["Loss of heterozygosity for the <i>NF2<\/i> gene in retinal and optic nerve lesions of patients with neurofibromatosis 2"],"prefix":"10.1002","volume":"198","author":[{"given":"Chi\u2010Chao","family":"Chan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christian A.","family":"Koch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muriel I.","family":"Kaiser\u2010Kupfer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dilys 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