{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T15:20:37Z","timestamp":1790176837966,"version":"4.1.0"},"reference-count":24,"publisher":"Wiley","issue":"20","license":[{"start":{"date-parts":[[2006,9,12]],"date-time":"2006-09-12T00:00:00Z","timestamp":1158019200000},"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":[[2006,10,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Autosomal dominant optic atrophy (ADOA) is the most common inherited optic atrophy. Clinical features of ADOA include a slowly progressive bilateral loss of visual acuity, constriction of peripheral visual fields, central scotomas, and color vision abnormalities. Although ADOA is the most commonly inherited optic atrophy, autosomal recessive, X\u2010linked, mitochondrial, and sporadic forms have also been reported. Four families with X\u2010linked optic atrophy (XLOA) were previously described. One family was subsequently linked to Xp11.4\u2013Xp11.2 (<jats:italic>OPA2<\/jats:italic>). This investigation studied one multi\u2010generation family with an apparently X\u2010linked form of optic atrophy and compared their clinical characteristics with those of the previously described families, and determined whether this family was linked to the same genetic locus. Fifteen individuals in a three\u2010generation Idaho family underwent complete eye examination, color vision testing, automated perimetry, and fundus photography. Polymorphic markers were used to genotype each individual and to determine linkage. Visual acuities ranged from 20\/30 to 20\/100. All affected subjects had significant optic nerve pallor. Obligate female carriers were clinically unaffected. Preliminary linkage analysis (LOD score\u2009=\u20091.8) revealed that the disease gene localized to the <jats:italic>OPA2<\/jats:italic> locus on Xp11.4\u2013Xp11.2. Four forms of inherited optic neuropathy, ADOA, autosomal recessive optic atrophy (Costeff Syndrome), Leber hereditary optic neuropathy, and Charcot\u2010Marie\u2010Tooth disease with optic atrophy, are associated with mitochondrial dysfunction. Future identification of the <jats:italic>XLOA<\/jats:italic> gene will reveal whether this form of optic atrophy is also associated with a mitochondrial defect. Identification of the <jats:italic>XLOA<\/jats:italic> gene will advance our understanding of the inherited optic neuropathies and perhaps suggest treatments for these diseases. An improved understanding of inherited optic neuropathies may in turn advance our understanding of acquired optic nerve diseases, such as glaucoma and ischemic optic neuropathy. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31455","type":"journal-article","created":{"date-parts":[[2006,9,12]],"date-time":"2006-09-12T22:23:43Z","timestamp":1158099823000},"page":"2207-2211","source":"Crossref","is-referenced-by-count":27,"title":["A family with X\u2010linked optic atrophy linked to the OPA2 locus Xp11.4\u2010Xp11.2"],"prefix":"10.1002","volume":"140A","author":[{"given":"Bradley J.","family":"Katz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith E.A.","family":"Warner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zongzhong","family":"Tong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhenglin","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kang","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,9,22]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/324651"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/514884"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1997.01100150097016"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/79936"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-001-0633-y"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0161-6420(80)35247-0"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320090110"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320280234"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.117.6.805"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000157282.76715.B1"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0420.1996.tb00672.x"},{"key":"e_1_2_6_13_1","first-page":"482","article-title":"Multilocus linkage analysis in humans: Detection of linkage and estimation of recombination","volume":"37","author":"Lathrop GM","year":"1985","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30794"},{"key":"e_1_2_6_15_1","first-page":"20","article-title":"Four generations of blindness","volume":"5","author":"Lysen JC","year":"1947","journal-title":"Bull Dight Inst"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1097\/00041327-200212000-00001"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1295-402"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0014-5793(02)02985-X"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.56021\/9780801861406"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2004.06.011"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.17.9.827"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0962-8924(01)02246-2"},{"key":"e_1_2_6_23_1","first-page":"277","article-title":"Comparative colour vision and other ophthalmological studies in three families with dominant inherited juvenile optic atrophy","volume":"13","author":"Volker\u2010Dieben HJ","year":"1974","journal-title":"Mod Probl Ophthalmol"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.12.1.94"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20797"}],"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.31455","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31455","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,15]],"date-time":"2023-11-15T09:48:40Z","timestamp":1700041720000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31455"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,9,22]]},"references-count":24,"journal-issue":{"issue":"20","published-print":{"date-parts":[[2006,10,15]]}},"alternative-id":["10.1002\/ajmg.a.31455"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31455","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,9,22]]}}}