Genetic heterogeneity of butterfly-shaped pigment dystrophy of the fovea.

Abstract

PURPOSE:

Butterfly-shaped macular dystrophy (BSMD) has so far only been associated with mutations in the peripherin/RDS gene. The initial aim of our study was to investigate the peripherin/RDS gene as the causative gene in a family with BSMD. Subsequently the putative involvement of the ROM-1 gene, 4 genes expressed in cone photoreceptors, all known non-syndromic macular, retinal pigment epithelium and choroidal dystrophy loci, all known Leber congenital amaurosis loci and all known non-syndromic congenital and stationary retinal disease loci was examined.

METHODS:

Thirteen members from the original family with autosomal dominant BSMD were examined. The protein coding exons of the peripherin/RDS gene were screened for mutations by sequence analysis. Linkage analysis was performed using markers flanking the peripherin/RDS gene to rule out the presence of a heterozygous deletion. Likewise, involvement of the ROM-1 gene, four cone genes, 41 non-syndromic retinal disease loci and one syndromic retinal disease locus was investigated.

RESULTS:

Sequence analysis of the peripherin/RDS gene revealed no mutations. In addition, the BSMD phenotype could not be genetically linked to the peripherin/RDS gene, the ROM-1 gene and the four cone genes nor to any of the 42 retinal disease loci.

CONCLUSIONS:

This study reveals genetic heterogeneity for BSMD by the identification of a BSMD family, which is not associated with a mutation in the peripherin/RDS gene nor with any other known non-syndromic retinal disease gene.

• Authors: Janneke J C van Lith-Verhoeven, Frans P M Cremers, Bellinda van den Helm, Carel B Hoyng, August F Deutman
• Journal: Molecular vision (Mol Vis) Vol. 9 Pg. 138-43 (Apr 24 2003) ISSN: 1090-0535 [Electronic] United States
• PMID: 12724643 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Eye Proteins
• Intermediate Filament Proteins
• Membrane Glycoproteins
• Membrane Proteins
• Nerve Tissue Proteins
• PRPH protein, human
• PRPH2 protein, human
• Peripherins
• ROM1 protein, human
• Tetraspanins

Topics

• Adolescent
• Adult
• Aged
• Chromosome Mapping
• Exons (genetics)
• Eye Proteins (genetics)
• Female
• Fluorescein Angiography
• Fovea Centralis (pathology)
• Fundus Oculi
• Genetic Heterogeneity
• Genetic Linkage
• Humans
• Intermediate Filament Proteins (genetics)
• Macular Degeneration (genetics, pathology)
• Male
• Membrane Glycoproteins
• Membrane Proteins (genetics)
• Middle Aged
• Mutation
• Nerve Tissue Proteins (genetics)
• Pedigree
• Peripherins
• Phenotype
• Pigment Epithelium of Eye (pathology)
• Tetraspanins