{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T04:10:05Z","timestamp":1759723805193,"version":"build-2065373602"},"reference-count":7,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1994,3]]},"abstract":"<jats:p>Stargardt's disease is an autosomal recessive condition characterised by a rapid and bilateral loss of central vision at around 7 to 12 years, with typical changes in the macular and perimacular region. It is one of the most frequent causes of macular degeneration in childhood and accounts for 7% of all retinal dystrophies. Considering that inclusions of lipofuscin-like substances are observed in retinal pigmentary cells of patients with Stargardt's disease on the one hand, and that the early symptoms of neuronal ceroid lipofuscinosis (CLN3) are suggestive of Stargardt's disease on the other hand (age of loss of visual acuity, appearance of the fundus), we decided to test allelism of Stargardt's disease with the infantile (CLN1) and juvenile forms of neuronal ceroid lipofuscinosis (CLN3), which map to chromosomes 1p32 and 16p12-p11 respectively. Using highly informative microsatellite DNA markers in eight multiplex families, we were able to exclude Stargardt's disease from the vicinity of the CLN1 and CLN3 loci. These results strongly reject the hypothesis of allelism of Stargardt's disease with the neuronal forms of ceroid lipofuscinosis.<\/jats:p>","DOI":"10.1136\/jmg.31.3.222","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"222-223","source":"Crossref","is-referenced-by-count":1,"title":["Stargardt's disease is not allelic to the genes for neuronal ceroid lipofuscinoses."],"prefix":"10.1136","volume":"31","author":[{"given":"S","family":"Gerber","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Odent","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Postel-Vinay","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N","family":"Janin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J L","family":"Dufier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Munnich","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Frezal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Kaplan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1994,3,1]]},"reference":[{"key":"ref_1","article-title":"Mendelian inheritance in man","author":"McKusick, V.A.","year":"1992","unstructured":"McKusick VA. Mendelian inheritance in man. 10th ed. Baltimore: Johns Hopkins University Press, 1992.","edition":"10th ed"},{"key":"ref_2","first-page":"635","article-title":"Clinical and genetic heterogeneity in retinitis pigmentosa","volume":"85","author":"Kaplan, J.; Bonneau, D.; Frezal, J.; Munnich, A.; Dufier, J.L.","year":"1990","unstructured":"Kaplan J, Bonneau D, Frezal J, Munnich A, Dufier JL. Clinical and genetic heterogeneity in retinitis pigmentosa. Hum Genet 1990;85:635-42.","journal-title":"Hum Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1136\/bjo.65.5.359","article-title":"The dark choroid in posterior retinal dystrophies","volume":"65","author":"Fish, G.; Grey, R.; Sehmi, K.S.; Bird, A.C.","year":"1981","unstructured":"Fish G, Grey R, Sehmi KS, Bird AC. The dark choroid in posterior retinal dystrophies. Br J Ophthalmol 1981;65:359-63.","journal-title":"Br J Ophthalmol"},{"key":"ref_4","first-page":"802","article-title":"Fundus flavimaculatus: clinical, genetic and pathologic observations","author":"Maumenee, I.H.; Maumenee, A.E.","year":"1976","unstructured":"Maumenee IH, Maumenee AE. Fundus flavimaculatus: clinical, genetic and pathologic observations. In: Franvois J, ed. Fifth Congress of the European Society of Ophthalmology, Hamburg, 1976. Stuttgart: Ferdinant Enke 1978:802.","journal-title":"Fifth Congress of the European Society of Ophthalmology, Hamburg"},{"key":"ref_5","first-page":"170","article-title":"Infantile form of neuronal ceroid lipofuscinosis (CLN1) maps to the short arm of chromosome 1","volume-title":"Genomics","volume":"9","author":"Jarvela, I.; Schleutker, J.; Haataya, L.","year":"1991","unstructured":"Jarvela I, Schleutker J, Haataya L, et al. Infantile form of neuronal ceroid lipofuscinosis (CLN1) maps to the short arm of chromosome 1. Genomics 1991;9:170-3."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1006\/geno.1993.1210","article-title":"Fine genetic mapping of the Batten disease locus (CLN3) by haplotype analysis and demonstration of allelic association with chromosome 16p microsatellite loci","volume":"16","author":"Mitchison, H.M.; Thompson, A.D.; Mulley, J.C.","year":"1993","unstructured":"Mitchison HM, Thompson AD, Mulley JC, et al. Fine genetic mapping of the Batten disease locus (CLN3) by haplotype analysis and demonstration of allelic association with chromosome 16p microsatellite loci. Genomics 1993;16:455-60.","journal-title":"Genomics"},{"key":"ref_7","first-page":"794801","article-title":"A second-generation linkage map of the human genome","volume":"359","author":"Weissenbach, J.; Gyapay, G.; Dib, C.","year":"1992","unstructured":"Weissenbach J, Gyapay G, Dib C, et al. A second-generation linkage map of the human genome. Nature 1992;359:794801.","journal-title":"Nature"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.31.3.222","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T03:28:35Z","timestamp":1759721315000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.31.3.222"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,3]]},"references-count":7,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1994,3,1]]},"published-print":{"date-parts":[[1994,3]]}},"alternative-id":["10.1136\/jmg.31.3.222"],"URL":"https:\/\/doi.org\/10.1136\/jmg.31.3.222","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1994,3]]}}}