{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T02:42:45Z","timestamp":1791859365103,"version":"4.3.4"},"reference-count":16,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":6303,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1988,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Optic nerve colobomas can occur as sporadic abnormalities, may be inherited as an autosomal dominant defect, occur as part of syndromes, and are rarely associated with cardiac malformations and midline encephaloceles.<\/jats:p><jats:p>Karcher [1979] described a father and son with the \u201cmorning glory\u201d optic disc anomaly and renal disease as a new association.<\/jats:p><jats:p>We report on two brothers with optic nerve colobomas associated with renal disease. The ophthalmologic findings and renal histopathology are presented. This second familial occurrence suggests that the association of optic nerve coloboma and renal disease is a newly recognized syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.1320290318","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:06:26Z","timestamp":1118545586000},"page":"597-605","source":"Crossref","is-referenced-by-count":54,"title":["Optic nerve coloboma associated with renal disease"],"prefix":"10.1002","volume":"29","author":[{"given":"R. Grey","family":"Weaver","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L. Frank","family":"Cashwell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William","family":"Lorentz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Whiteman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kim R.","family":"Geisinger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marshall","family":"Ball","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John M.","family":"Optiz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0161-6420(82)34624-2"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0161-6420(80)35278-0"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1980.00500530048006"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.48.3.151"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1159\/000309330"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1974.03900060166014"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1975.01010020121004"},{"key":"e_1_2_1_9_1","first-page":"122","article-title":"Colobomatous microphthalmia, heart disease, hearing loss and mental retardation: A syndrome","volume":"16","author":"Hittner HM","year":"1979","journal-title":"J Pediatr Ophthalmol"},{"key":"e_1_2_1_10_1","article-title":"Ocular colobomata, cardiac defect and other anomalies: A study of seven cases including two sibs","volume":"289","author":"Ho CK","year":"1975","journal-title":"Med Genet"},{"key":"e_1_2_1_11_1","first-page":"835","article-title":"Zum morning glory syndrome","volume":"175","author":"Karcher H","year":"1979","journal-title":"Klin Monatsbl Augenheilkd"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9394(70)92269-5"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0161-6420(82)34623-0"},{"key":"e_1_2_1_14_1","first-page":"116","volume-title":"Developmental Abnormalities of the Eye","author":"Mann I","year":"1957"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1159\/000309052"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1976.03910030183002"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9394(67)91553-X"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320290318","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320290318","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,22]],"date-time":"2023-10-22T17:53:00Z","timestamp":1697997180000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320290318"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1988,3]]},"references-count":16,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1988,3]]}},"alternative-id":["10.1002\/ajmg.1320290318"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320290318","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1988,3]]}}}