BACKGROUND: Autosomal recessive Stargardt's disease is a macular degeneration characterised by a juvenile onset and a rapidly progressive course resulting in an atrophic macular area typically surrounded by yellowish retinal flecks. METHOD: The disease locus has previously been assigned to markers from chromosome 1p21-p13 by genetic linkage analysis in eight multiplex Stargardt's disease families. RESULTS: In an extended analysis, the assignment to chromosome 1p was confirmed in the majority of the 21 families with Stargardt's disease who were studied. In addition, a series of recombinant chromosomes further narrowed the Stargardt's disease region to an approximately 3 cM interval between markers at D1S424 and D1S497. CONCLUSION: Multipoint linkage analysis most probably excludes this locus in three of these families suggesting non-allelic heterogeneity with at least one additional minor Stargardt's disease locus.
BACKGROUND:Autosomal recessive Stargardt's disease is a macular degeneration characterised by a juvenile onset and a rapidly progressive course resulting in an atrophic macular area typically surrounded by yellowish retinal flecks. METHOD: The disease locus has previously been assigned to markers from chromosome 1p21-p13 by genetic linkage analysis in eight multiplex Stargardt's disease families. RESULTS: In an extended analysis, the assignment to chromosome 1p was confirmed in the majority of the 21 families with Stargardt's disease who were studied. In addition, a series of recombinant chromosomes further narrowed the Stargardt's disease region to an approximately 3 cM interval between markers at D1S424 and D1S497. CONCLUSION: Multipoint linkage analysis most probably excludes this locus in three of these families suggesting non-allelic heterogeneity with at least one additional minor Stargardt's disease locus.
Authors: J Vesa; E Hellsten; L A Verkruyse; L A Camp; J Rapola; P Santavuori; S L Hofmann; L Peltonen Journal: Nature Date: 1995-08-17 Impact factor: 49.962
Authors: A Maugeri; M A van Driel; D J van de Pol; B J Klevering; F J van Haren; N Tijmes; A A Bergen; K Rohrschneider; A Blankenagel; A J Pinckers; N Dahl; H G Brunner; A F Deutman; C B Hoyng; F P Cremers Journal: Am J Hum Genet Date: 1999-04 Impact factor: 11.025
Authors: R A Lewis; N F Shroyer; N Singh; R Allikmets; A Hutchinson; Y Li; J R Lupski; M Leppert; M Dean Journal: Am J Hum Genet Date: 1999-02 Impact factor: 11.025