{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T00:12:14Z","timestamp":1760832734840,"version":"build-2065373602"},"reference-count":22,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1991,6]]},"abstract":"<jats:p>X linked retinoschisis (RS) is a vitreoretinal disease resulting from microcystic degeneration of the macula associated with peripheral lesions. The disease gene has already been assigned to the distal short arm of the X chromosome (Xp22.2) by linkage studies. In order to contribute both to a better localisation of the RS locus and to genetic counselling in RS families, we have carried out a clinical and genetic analysis in seven pedigrees. We show, first, that in contrast with previous reports, heterozygote carriers frequently express the disease, and display peripheral retinal alterations similar to those found in affected males. Second, while distal markers DXS16, DXS207, and DXS43 are closely linked to the disease locus, a high level of recombination events was found with centromeric markers, namely DXS274, DXS41, and DXS164. These findings must be taken into account for both carrier detection and prenatal diagnosis in X linked RS.<\/jats:p>","DOI":"10.1136\/jmg.28.6.383","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"383-388","source":"Crossref","is-referenced-by-count":25,"title":["Contribution to carrier detection and genetic counselling in X linked retinoschisis."],"prefix":"10.1136","volume":"28","author":[{"given":"J","family":"Kaplan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Pelet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H","family":"Hentati","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Jeanpierre","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M L","family":"Briard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H","family":"Journel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Munnich","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J L","family":"Dufier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1991,6,1]]},"reference":[{"key":"ref_1","first-page":"487","article-title":"Retinoschisis juvenile idiopathique des jeunes gens","volume":"6","author":"Salvanet-Bouccara, A.; Galaup, A.","year":"1983","unstructured":"Salvanet-Bouccara A, Galaup A. Retinoschisis juvenile idiopathique des jeunes gens. J Fr Ophtalmol 1983;6:487-93.","journal-title":"J Fr Ophtalmol"},{"key":"ref_2","first-page":"83","article-title":"A genetic study of three rare retinal disorders; dystrophia retinae dysacusis syndrome, X chromosomal retinoschisis and grouped pigments of the retina","volume":"7","author":"Forsius, H.; Eriksson, A.; Nuutila, A.; Vainio-Mattila, B.; Krause, U.","year":"1971","unstructured":"Forsius H, Eriksson A, Nuutila A, Vainio-Mattila B, Krause U. A genetic study of three rare retinal disorders; dystrophia retinae dysacusis syndrome, X chromosomal retinoschisis and grouped pigments of the retina. Birth Defects 1971;7:83-98.","journal-title":"Birth Defects"},{"key":"ref_3","first-page":"93","article-title":"Estimationofrecurrencerisks forgenetic counselling","volume-title":"Methodology in medical genetics","author":"Emery, A.E.H.","year":"1986","unstructured":"Emery AEH. Estimationofrecurrencerisks forgenetic counselling. In: Methodology in medical genetics. Edinburgh: Churchill Livingstone, 1986:93-113."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1007\/BF00327111","article-title":"Linkage relationships between retinoschisis, Xg, and a cloned DNA sequence from the distal short arm of the X chromosome","volume":"64","author":"Wieacker, P.T.F.; Wienker, B.; Dallapiccola, K.; Bender, K.; Davies, K.E.; Ropers, H.H.","year":"1983","unstructured":"Wieacker PTF, Wienker B, Dallapiccola K, Bender K, Davies KE, Ropers HH. Linkage relationships between retinoschisis, Xg, and a cloned DNA sequence from the distal short arm of the X chromosome. Hum Genet 1983;64:143-5.","journal-title":"Hum Genet"},{"key":"ref_5","first-page":"280","article-title":"Molecular cloning. A laboratory manual","author":"Maniatis, T.","year":"1982","unstructured":"Maniatis T. Molecular cloning. A laboratory manual. 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Congenital vascular veils in the vitreous. Arch Ophihalmol 1960;63:92-101.","journal-title":"Arch Ophihalmol"},{"key":"ref_15","first-page":"599","article-title":"Diseases of the retina and vitreous","volume-title":"Pediatric ophthalmology","author":"Tasman, W.","year":"1983","unstructured":"Tasman W. Diseases of the retina and vitreous. In: Harley RD, ed. Pediatric ophthalmology. 2nd ed. Philadelphia: Saunders, 1983:599-626.","edition":"2nd ed"},{"key":"ref_16","first-page":"382","article-title":"Linkage relationship between retinoschisis and four marker loci","volume":"79","author":"Gellert, G.; Pettersson, J.; Krawczak, M.; Zoll, B.","year":"1988","unstructured":"Gellert G, Pettersson J, Krawczak M, Zoll B. Linkage relationship between retinoschisis and four marker loci. Hum Genet 1988;79:382-4.","journal-title":"Hum Genet"},{"key":"ref_17","first-page":"634","article-title":"Further linkage studies between retinoschisis and cloned DNA sequences from the distal Xp. HGM8","volume":"40","author":"Gal, A.; Wienker, T.F.; Davies, K.E.","year":"1985","unstructured":"Gal A, Wienker TF, Davies KE, et al. Further linkage studies between retinoschisis and cloned DNA sequences from the distal Xp. HGM8. Cytogenet Cell Genet 1985;40:634.","journal-title":"Cytogenet Cell Genet"},{"key":"ref_18","first-page":"950","article-title":"Additional linkage data and gene order around the locus for X-linked retinoschisis. HGM1O","volume":"51","author":"Alitalo, T.; Forsius, H.; Karna, J.; Eriksson, A.W.; Kruse, T.A.; de la Chapelle, A.","year":"1989","unstructured":"Alitalo T, Forsius H, Karna J, Eriksson AW, Kruse TA, de la Chapelle A. Additional linkage data and gene order around the locus for X-linked retinoschisis. HGM1O. 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