PURPOSE: Localization of the gene responsible for autosomal dominant @entity1020 (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 analyses. RESULTS: The @entity1020 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 @entity6119 -like @entity1020 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 @entity60857 but excludes @entity6391 7 (CORD7; centromeric) and North Carolina @entity1020 and progressive bifocal @entity5066 ( @entity69477 / @entity69478 ; telomeric). The mapping interval overlaps with that of @entity6391 ( @entity23949 ). CONCLUSIONS: These results implicate at least three genetically distinct loci for forms of @entity1020 that lie within a 30-cM interval on chromosome 6p11-6q16: CORD7, adMD, and @entity69477 / @entity69478 . Because the critical interval for the adMD family studied overlaps with @entity60857 and @entity23949 , these loci could be allelic.

Autosomal dominant macular atrophy at 6q14 excludes CORD7 and XXXX / @entity69478 loci.

@entity5066 :: ('MESH:C566236', 'Disease') :: ['chorioretinal atrophy'] @entity60857 :: ('6785', 'Gene') :: ['STGD3'] @entity69478 :: ('7948', 'Gene') :: ['PBCRA'] @entity6391 :: ('MESH:D012174', 'Disease') :: ['recessive retinitis pigmentosa', 'cone-rod dystrophy'] @entity23949 :: ('346007', 'Gene') :: ['RP25'] @entity6119 :: ('MESH:C580470', 'Disease') :: ['Stargardt'] @entity1020 :: ('MESH:D008268', 'Disease') :: ['atrophic macular degeneration', 'macular degeneration'] @entity69477 :: ('4167', 'Gene') :: ['MCDR1']
@entity69477 :: (4167,Gene) :: ['MCDR1']
