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Title of Journal: Arch Ophthalmol

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Abbravation: Archives of Ophthalmology

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American Medical Association

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DOI

10.1007/s00382-005-0093-5

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ISSN

0003-9950

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Autosomal Dominant Macular Dystrophy Simulating North Carolina Macular Dystrophy

Authors: Frank G. Holz, Kevin Evans, Cheryl Y. Gregory, Shomi Bhattacharya, Alan C. Bird,

Publish Date: 1995/02/01
Volume: 113, Issue:2, Pages: 178-184
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Abstract

Methods and Patients:  Clinical, angiographic, and electrophysiologic data of five affected members in a family of Indian origin were evaluated. Molecular genetic analysis was undertaken to assess whether the gene responsible for the phenotype in this pedigree mapped to a region previously assigned to dominantly inherited macular dystrophies, including North Carolina macular dystrophy.Results:  The fundus appearance in the proband simulated stage 3 North Carolina macular dystrophy. Affected relatives had features in common with pattern dystrophy, fundus flavimaculatus with a dark choroid, and dominantly inherited drusen. Linkage to loci assigned to a number of retinal dystrophies principally affecting the posterior pole, including the North Carolina macular dystrophy locus, was excluded.


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References

citation_title=On the molecular genetics of retinits pigmentosa; citation_author=Humphries P, Kenna P, Farrar GJ;Science; citation_year=1992; citation_volume=256; citation_pages=804-808;


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