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A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1

Nature Genetics volume 5, pages 308–311 (1993)Cite this article

A Correction to this article was published on 01 February 1994

Abstract

Stargardt's disease (fundus flavimaculatus) is one of the most frequent causes of macular degeneration in childhood and accounts for 7% of all retinal dystrophies. It is an autosomal recessive condition characterized by a bilateral loss of central vision occurring at age 7–12 years. Genetic linkage analysis of eight families has assigned the disease locus to chromosome 1p21–p13. Multipoint linkage analysis and haplotype analysis has allowed us to establish the best estimate for location of the gene over the locus D1S435 (maximum lod score of 12.66). Our results are consistent with the genetic homogeneity of this condition.

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Authors and Affiliations

  1. Service de Génétique et Unité de Recherches sur les Handicaps Génétiques de l'Enfant INSERM U–12, Hôpital des Enfants-Malades, 149 rue de Sèvres, 75743, Paris, Cedex 15, France

    Josseline Kaplan, Sylvie Gerber, Dominique Larget-Piet, Jean-Michel Rozet, Hélène Dollfus, Marie-Louise Briard, Jean Frézal & Arnold Munnich

  2. Service d'Ophtalmologie, Hôpital Necker, 75743, Paris, Cedex 15, France

    Jean-Louis Dufier

  3. Centre Hospitalier Régional et Universitaire, 35056, RENNES, France

    Sylvie Odent

  4. Centre Départemental des Troubles de l'Audition et de la Vision chez les Enfants, 93200, SAINT-DENIS, France

    Anne Postel-Vinay

  5. Consultation de Génétique, Institut Gustave Roussy, 94805, Villejuif, Cedex, France

    Nicolas Janin

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  1. Josseline Kaplan
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  2. Sylvie Gerber
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  12. Arnold Munnich
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Kaplan, J., Gerber, S., Larget-Piet, D. et al. A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1. Nat Genet 5, 308–311 (1993). https://doi.org/10.1038/ng1193-308

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  • DOI: https://doi.org/10.1038/ng1193-308

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