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Elise Héon, MD, FRCSC; Bertrand Piguet, MD; Francis Munier, MD; Scott R. Sneed, MD; Craig M. Morgan, MD; Sergio Forni, MD; Grasiano Pescia, MD; Daniel Schorderet, MD, PhD; Chris M. Taylor; Luan M. Streb; Carmella D. Wiles; Darryl Y. Nishimura, PhD; Val C. Sheffield, MD, PhD; Edwin M. Stone, MD, PhD

Arch Ophthalmol. 1996;114(2):193-198.

Abstract
Objective
To identify the chromosomal location of the gene involved in the pathogenesis of autosomal dominant radial drusen (malattia leventinese).

Patients
Eighty-six members of four families affected with radial drusen; one family of American origin and three families of Swiss origin.

Methods
Family members were clinically examined for the presence of radial drusen. Affected patients and potentially informative spouses were genotyped with short tandem repeat polymorphisms distributed across the autosomal genome. The clinical and genotypic data were subjected to linkage analysis.

Results
Fifty-six patients were found to be clinically affected. Significant linkage was observed between the disease phenotype and markers known to lie on the short arm of chromosome 2. The maximum two-point lod score (Z_max) observed for all four families combined was 10.5 and was obtained with marker D2S378. Multipoint analysis yielded a Z_max of 12, centered on marker D2S378. The lod-1 confidence interval was 8 cM, while the disease interval defined by observed recombinants was 14 cM.

Conclusions
The gene responsible for autosomal dominant radial drusen has been mapped to the short arm of chromosome 2. This is an important step toward actually isolating the disease-causing gene. In addition, this information can be used to evaluate other familial drusen phenotypes such as Doyne's macular dystrophy for a possible allelic relationship.

Author Affiliations
From the Hôpital Jules Gonin (Drs Héon, Piguet, and Munier) and the Department of Genetic Medicine, Centre Hospitalier Universitaire Vaudois (Drs Héon, Munier, Pescia, and Schorderet), Lausanne, Switzerland; Department of Ophthalmology, University of Toronto, Toronto, Ontario (Dr Héon); and Departments of Ophthalmology (Mss Taylor, Streb, and Wiles and Dr Stone) and Pediatrics (Drs Nishimura and Sheffield), The University of Iowa, Iowa City. Drs Sneed (Phoenix, Ariz), Morgan (Huntington, WVa), and Forni (Bellinzona, Ticino, Switzerland) are ophthalmologists in private practice.

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