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Irina B. Griesinger, Paul A. Sieving, Radha Ayyagari; Autosomal Dominant Macular Atrophy at 6q14 Excludes CORD7 and MCDR1/PBCRA Loci. Invest. Ophthalmol. Vis. Sci. 2000;41(1):248-255.
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purpose. Localization of the gene responsible for autosomal dominant atrophic
macular degeneration (adMD) in a large pedigree UM:H785.
methods. Standard ophthalmologic examinations were performed. Microsatellite
markers were used to map the disease gene by linkage and haplotype
results. The macular degeneration in this family is characterized by progressive
retinal pigment epithelial atrophy in the macula without apparent
peripheral involvement by ophthalmoscopy or functional studies. Acuity
loss progressed with age and generally was worse in the older affected
individuals. The rod and cone function remained normal or nearly normal
in all tested affected members up to 61 years of age. The phenotype in
our family has characteristics similar to Stargardt-like macular
degeneration with some differences. Haplotype analysis localized the
disease gene in our adMD family to an 8-cM region at 6q14, which is
within the 18-cM interval of STGD3 but excludes cone-rod dystrophy 7
(CORD7; centromeric) and North Carolina macular degeneration and
progressive bifocal chorioretinal atrophy (MCDR1/PBCRA; telomeric). The
mapping interval overlaps with that of recessive retinitis pigmentosa
conclusions. These results implicate at least three genetically distinct loci for
forms of macular degeneration that lie within a 30-cM interval on
chromosome 6p11–6q16: CORD7, adMD, and MCDR1/PBCRA. Because the
critical interval for the adMD family studied overlaps with STGD3 and
RP25, these loci could be allelic.
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