{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T12:26:16Z","timestamp":1769603176043,"version":"3.49.0"},"reference-count":40,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2012,6,19]],"date-time":"2012-06-19T00:00:00Z","timestamp":1340064000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Exper Ophthalmology"],"published-print":{"date-parts":[[2012,7]]},"abstract":"<jats:title>A<jats:sc>bstract<\/jats:sc><\/jats:title><jats:p><jats:bold>Background:\u2002<\/jats:bold> To characterize the clinical and genetic abnormalities within two Australian pedigrees with high incidences of retinal detachment and visual disability.<\/jats:p><jats:p><jats:bold>Design:\u2002<\/jats:bold> Prospective review of two extended Australian pedigrees with high rates of retinal detachment.<\/jats:p><jats:p><jats:bold>Participants:\u2002<\/jats:bold> Twenty\u2010two family members from two extended Australian pedigrees with high rates of retinal detachment were examined.<\/jats:p><jats:p><jats:bold>Methods:\u2002<\/jats:bold> A full ophthalmic history and examination were performed, and DNA was analysed by linkage analysis and mutation screening.<\/jats:p><jats:p><jats:bold>Main Outcome Measures:\u2002<\/jats:bold> Characterization of a causative hereditary gene mutation in each family.<\/jats:p><jats:p><jats:bold>Results:\u2002<\/jats:bold> All affected family members of one pedigree carried a C192A <jats:italic>COL2A1<\/jats:italic> exon 2 mutation. None of the affected family members had early\u2010onset arthritis, hearing abnormalities, abnormal clefting or facial features characteristic of classical Stickler syndrome. All affected members of the familial exudative vitreoretinopathy pedigree carried a 957delG <jats:italic>FZD4<\/jats:italic> mutation.<\/jats:p><jats:p><jats:bold>Conclusions:\u2002<\/jats:bold> Patients with retinal detachment and a positive family history should be investigated for heritable conditions associated with retinal detachment such as Stickler syndrome and familial exudative vitreoretinopathy. The absence of non\u2010ocular features of Stickler syndrome should raise the possibility of mutations in exon 2 of <jats:italic>COL2A1<\/jats:italic>. Similarly, late\u2010onset familial exudative vitreoretinopathy may appear more like a rhegmatogenous detachment and not be correctly diagnosed. When a causative gene mutation is identified, cascade genetic screening of the family will facilitate genetic counselling and screening of high\u2010risk relatives, allowing targeted management of the pre\u2010detachment changes in affected patients.<\/jats:p>","DOI":"10.1111\/j.1442-9071.2012.02804.x","type":"journal-article","created":{"date-parts":[[2012,5,10]],"date-time":"2012-05-10T13:06:18Z","timestamp":1336655178000},"page":"476-483","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Familial retinal detachment associated with <i>COL2A1<\/i> exon 2 and <i>FZD4<\/i> mutations"],"prefix":"10.1111","volume":"40","author":[{"given":"Thomas L","family":"Edwards","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Benjamin O","family":"Burt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Graeme 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