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© 1995 Oxford University Press

OTHER

Mapping the locus of atrophia areata, a helicoid peripapillary chorioretinal degeneration with autosomal dominant inheritance, to chromosome 11p15

Ragnheidur Fossdal*, Loftur Magnússon1, James L. Weber2 and Ólafur Jensson

Department of Medical Genetics The Blood Bank, Box 1408, IS-121 Reykjavik 1The Eye Clinic Kaupangur Myrarvegur IS-600 Akureyri, Iceland 2Marshfield Medical Research Foundation Marshfield, WI 54449, USA

*To whom correspondence should be addressed

Received November 11, 1994; Revised January 3, 1995; Accepted January 3, 1995

Atrophia areata (AA) is an early onset autosomal dominant helicoid peripapillary chorioretinal degeneration, which was first demonstrated to be hereditary in an Icelandic family. It is characterized by bilateral wing-shaped atrophic areas of the retina, radiating from the optic disk. Primary complaints of affected individuals are due to refractive errors and scotomata associated with myopia which increases with age. A genome linkage search with 112 microsatellite DNA markers resulted in the highest probability of location for AA on chromosome 11. We genotyped 18 polymorphic markers on chromosome 11 and seven showed significant linkage to AA. The markers D11S1323 and D11S902 on 11p15 flank the region encompassing the gene for AA.


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