A gene for late-onset fundus flavimaculatus with macular dystrophy maps to chromosome 1p13.
Fundus flavimaculatus with macular dystrophy is an autosomal recessive disease responsible for a progressive loss of visual acuity in adulthood, with pigmentary changes of the macula, perimacular flecks, and atrophy of the retinal pigmentary epithelium. Since this condition shares several clinical features with Stargardt disease, which has been mapped to chromosome 1p21-p13, we tested the disease for linkage to chromosome 1p. We report here the mapping of the disease locus to chromosome 1p13-p21, in the genetic interval defined by loci D1S435 and D1S415, in four multiplex families (maximum lod score 4.79 at recombination fraction 0 for probe AFM217zb2 at locus D1S435). Thus, despite differences in the age at onset, clinical course, and severity, fundus flavimaculatus with macular dystrophy and Stargardt disease are probably allelic disorders. This result supports the view that allelic mutations produce a continuum of macular dystrophies, with onset in early childhood to late adulthood.
Service de Génétique et Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U393, Hôpital des Enfants Malades, Paris, France.
S
S
Gerber
J M
JM
Rozet
D
D
Bonneau
E
E
Souied
A
A
Camuzat
J L
JL
Dufier
P
P
Amalric
J
J
Weissenbach
A
A
Munnich
J
J
Kaplan
D000483:Alleles; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D005260:Female; D005654:Fundus Oculi; D005808:Genes, Recessive / Q000235:genetics; D008040:Genetic Linkage; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics*; D008297:Male; D010375:Pedigree; D012160:Retina / Q000473:pathology*; D012171:Retinal Vessels / Q000473:pathology*; D014792:Visual Acuity / Q000235:genetics*