title: An early-onset autosomal dominant macular dystrophy (MCDR3) resembling North Carolina macular dystrophy maps to chromosome 5.
abstract: OBJECTIVE
  To characterize the phenotype of an autosomal dominant macular dystrophy and identify the chromosomal locus.
  
  
  METHODS
  Thirteen members of a four-generation, nonconsanguineous British family were examined clinically and also underwent automated perimetry, fundus fluorescein angiography, and fundus autofluorescence imaging. After informed consent was obtained, blood samples were taken for DNA extraction, and genetic linkage analysis was performed.
  
  
  RESULTS
  The retinal changes have an early age of onset and are confined to the macular region. The macular abnormalities vary from mild retinal pigment epithelium (RPE) pigmentary change to atrophy. Drusen-like deposits are present to various degrees and are characteristic of the phenotype. Subretinal neovascular membrane (SRNVM) is an established complication. Genetic linkage analysis established linkage to chromosome 5, region p13.1-p15.33 with a maximum LOD score of 3.61 at a recombination fraction of 0.00 for marker D5S630. The locus for this autosomal dominant macular dystrophy lies between flanking markers D5S1981 and D5S2031.
  
  
  CONCLUSIONS
  A novel locus has been identified for early-onset autosomal dominant macular dystrophy on chromosome 5.
authors.affiliation: Institute of Ophthalmology, University College London, London, United Kingdom.
authors.forename: Michel
authors.initials: M
authors.lastname: Michaelides
authors.forename: Samantha
authors.initials: S
authors.lastname: Johnson
authors.forename: Alok K
authors.initials: AK
authors.lastname: Tekriwal
authors.forename: Graham E
authors.initials: GE
authors.lastname: Holder
authors.forename: Caren
authors.initials: C
authors.lastname: Bellmann
authors.forename: Esther
authors.initials: E
authors.lastname: Kinning
authors.forename: Geoffrey
authors.initials: G
authors.lastname: Woodruff
authors.forename: Richard C
authors.initials: RC
authors.lastname: Trembath
authors.forename: David M
authors.initials: DM
authors.lastname: Hunt
authors.forename: Anthony T
authors.initials: AT
authors.lastname: Moore
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002874:Chromosome Mapping; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D004247:DNA / Q000032:analysis; D005260:Female; D005451:Fluorescein Angiography; D005799:Genes, Dominant; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D008126:Lod Score; D008268:Macular Degeneration / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D009657:North Carolina; D010375:Pedigree; D016133:Polymerase Chain Reaction
chemical_list: D004247:DNA