{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T07:24:21Z","timestamp":1791962661821,"version":"4.3.4"},"reference-count":21,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2007,5,1]],"date-time":"2007-05-01T00:00:00Z","timestamp":1177977600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2007,5,1]],"date-time":"2007-05-01T00:00:00Z","timestamp":1177977600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["ajo.com","clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["American Journal of Ophthalmology"],"published-print":{"date-parts":[[2007,5]]},"DOI":"10.1016\/j.ajo.2007.01.029","type":"journal-article","created":{"date-parts":[[2007,3,29]],"date-time":"2007-03-29T07:16:59Z","timestamp":1175152619000},"page":"788-794.e1","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":19,"title":["Familial Cavitary Optic Disk Anomalies: Clinical Features of a Large Family with Examples of Progressive Optic Nerve Head Cupping"],"prefix":"10.1016","volume":"143","author":[{"given":"Robert A.","family":"Honkanen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lee M.","family":"Jampol","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John H.","family":"Fingert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael D.","family":"Moore","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine M.","family":"Taylor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edwin M.","family":"Stone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wallace L.M.","family":"Alward","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajo.2007.01.029_bib1","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/0039-6257(94)90155-4","article-title":"Congenital optic disk anomalies","volume":"39","author":"Brodsky","year":"1994","journal-title":"Surv Ophthalmol"},{"key":"10.1016\/j.ajo.2007.01.029_bib2","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1016\/S0161-6420(89)32886-7","article-title":"The spectrum of cavitary optic disc anomalies in a family","volume":"96","author":"Slusher","year":"1989","journal-title":"Ophthalmology"},{"key":"10.1016\/j.ajo.2007.01.029_bib3","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1007\/BF00143047","article-title":"The morning glory disc anomaly: contractile movement, classification, and embryogenesis","volume":"65","author":"Pollock","year":"1987","journal-title":"Doc Ophthalmol"},{"key":"10.1016\/j.ajo.2007.01.029_bib4","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/0039-6257(82)90111-4","article-title":"Congenital anomalies of the optic disc","volume":"27","author":"Apple","year":"1982","journal-title":"Surv Ophthalmol"},{"key":"10.1016\/j.ajo.2007.01.029_bib5","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1038\/ng0495-358","article-title":"Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies, and vesicoureteral reflux","volume":"9","author":"Sanyanusin","year":"1995","journal-title":"Nat Genet"},{"key":"10.1016\/j.ajo.2007.01.029_bib6","doi-asserted-by":"crossref","first-page":"1912","DOI":"10.1016\/S0161-6420(01)00722-9","article-title":"Renal coloboma syndrome","volume":"108","author":"Dureau","year":"2001","journal-title":"Ophthalmology"},{"key":"10.1016\/j.ajo.2007.01.029_bib7","doi-asserted-by":"crossref","first-page":"915","DOI":"10.1093\/hmg\/2.7.915","article-title":"PAX6 mutations in aniridia","volume":"7","author":"Hanson","year":"1993","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.ajo.2007.01.029_bib8","doi-asserted-by":"crossref","first-page":"1565","DOI":"10.1086\/375555","article-title":"Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations","volume":"72","author":"Azuma","year":"2003","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ajo.2007.01.029_bib9","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1016\/S0002-9394(99)00463-8","article-title":"Progressive optic nerve cupping and neural rim decrease in a patient with bilateral autosomal dominant optic nerve colobomas","volume":"129","author":"Moore","year":"2000","journal-title":"Am J Ophthalmol"},{"key":"10.1016\/j.ajo.2007.01.029_bib10","doi-asserted-by":"crossref","DOI":"10.1016\/j.ajo.2007.01.042","article-title":"Familial cavitary optic disc anomalies: identification of a novel genetic locus","volume":"143","author":"Fingert","year":"2007","journal-title":"Am J Ophthalmol"},{"key":"10.1016\/j.ajo.2007.01.029_bib11","first-page":"95","article-title":"Demonstration of exclusive cilioretinal vascular system supplying the retina in man: vacant discs","volume":"96","author":"Parsa","year":"1998","journal-title":"Trans Am Ophthalmol Soc"},{"key":"10.1016\/j.ajo.2007.01.029_bib12","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1001\/archopht.1996.01100130159008","article-title":"Imaging congenital optic disc pits and associated maculopathy using optical coherence tomography","volume":"114","author":"Krivoy","year":"1996","journal-title":"Arch Ophthalmol"},{"key":"10.1016\/j.ajo.2007.01.029_bib13","first-page":"422","article-title":"Ontogenese der Iris Kolobom","volume":"45","author":"von Szily","year":"1907","journal-title":"Klin Monatsbl Augenheilkd"},{"key":"10.1016\/j.ajo.2007.01.029_bib14","first-page":"325","article-title":"Heridit\u00e4t der opticus-Colobome","volume":"28","author":"Weyert","year":"1890","journal-title":"Klin Monatsbl Augenheilkd"},{"key":"10.1016\/j.ajo.2007.01.029_bib15","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1001\/archopht.1976.03910030183002","article-title":"Optic nerve colobomas of autosomal-dominant heredity","volume":"94","author":"Savell","year":"1976","journal-title":"Arch Ophthalmol"},{"key":"10.1016\/j.ajo.2007.01.029_bib16","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1002\/ajmg.1320290318","article-title":"Optic nerve coloboma associated with renal disease","volume":"29","author":"Weaver","year":"1988","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.ajo.2007.01.029_bib17","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1016\/S0002-9394(14)71656-3","article-title":"Dominant inheritance of optic pits","volume":"124","author":"Stefko","year":"1997","journal-title":"Am J Ophthalmol"},{"key":"10.1016\/j.ajo.2007.01.029_bib18","doi-asserted-by":"crossref","first-page":"844","DOI":"10.1016\/S0002-9394(14)71706-4","article-title":"Bilateral congenital optic nerve head pits in monozygotic siblings","volume":"124","author":"Jonas","year":"1997","journal-title":"Am J Ophthalmol"},{"key":"10.1016\/j.ajo.2007.01.029_bib19","doi-asserted-by":"crossref","first-page":"71","DOI":"10.3109\/13816818509007858","article-title":"Genetic and ultrasound study of abnormalities of the optic nerve head","volume":"5","author":"Magli","year":"1985","journal-title":"Ophthalmic Paediatr Genet"},{"key":"10.1016\/j.ajo.2007.01.029_bib20","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1002\/(SICI)1096-8628(19971017)72:2<227::AID-AJMG19>3.0.CO;2-P","article-title":"Dominant coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip\/palate","volume":"72","author":"Ravine","year":"1996","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ajo.2007.01.029_bib21","doi-asserted-by":"crossref","first-page":"1750","DOI":"10.1001\/archopht.123.12.1750","article-title":"Dynamic atypical optic nerve coloboma associated with transient macular detachment","volume":"123","author":"Perkins","year":"2005","journal-title":"Arch Ophthalmol"}],"container-title":["American Journal of Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002939407000992?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002939407000992?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T12:53:44Z","timestamp":1757595224000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002939407000992"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,5]]},"references-count":21,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2007,5]]}},"alternative-id":["S0002939407000992"],"URL":"https:\/\/doi.org\/10.1016\/j.ajo.2007.01.029","relation":{},"ISSN":["0002-9394"],"issn-type":[{"value":"0002-9394","type":"print"}],"subject":[],"published":{"date-parts":[[2007,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Familial Cavitary Optic Disk Anomalies: Clinical Features of a Large Family with Examples of Progressive Optic Nerve Head Cupping","name":"articletitle","label":"Article Title"},{"value":"American Journal of Ophthalmology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajo.2007.01.029","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2007 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}