The gene responsible for autosomal dominant Doyne's honeycomb retinal dystrophy (DHRD) maps to chromosome 2p16 [published erratum appears in Hum Mol Genet 1996 Sep;5(9):1390]

Degeneration in the macula region of the retina is a feature of aheterogeneous group of inherited, progressive disorders, causing blindingvisual impairment. Autosomal dominant Doyne's honeycomb retinal dystrophy(DHRD) is characterised by the presence of drusen deposits at the level ofBruch's membrane in the macula and around the edge of the optic nerve head.We have studied 63 members of a large, nine-generation British pedigree bylinkage analysis. Two-point analysis showed significant linkage to ninemarkers on the short arm of chromosome 2, a region overlapping thatrecently reported to be linked to Malattia leventinese. A maximum lod score(Zmax) of 7.29 (theta = 0.0) was obtained at marker locus D2S2251.Haplotype analysis of recombination events localised the disease to a 5 cMregion between marker loci D2S2316 and D2S378. Striking clinicalsimilarities between DHRD and the more common condition age-related maculardegeneration (ARMD) suggest that the disease gene at this locus could beconsidered as the most likely candidate in future studies on ARMD.