Human Molecular Genetics, Vol 5, 1055-1059, Copyright © 1996 by Oxford University Press
CY Gregory, K Evans, SD Wijesuriya, S Kermani, MR Jay, C Plant, N Cox, AC Bird and SS Bhattacharya
Degeneration in the macula region of the retina is a feature of a
heterogeneous group of inherited, progressive disorders, causing blinding
visual impairment. Autosomal dominant Doyne's honeycomb retinal dystrophy
(DHRD) is characterised by the presence of drusen deposits at the level of
Bruch'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 by
linkage analysis. Two-point analysis showed significant linkage to nine
markers on the short arm of chromosome 2, a region overlapping that
recently 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 cM
region between marker loci D2S2316 and D2S378. Striking clinical
similarities between DHRD and the more common condition age-related macular
degeneration (ARMD) suggest that the disease gene at this locus could be
considered as the most likely candidate in future studies on ARMD.
ARTICLES
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]
Department of Molecular Genetics, Institute of Ophthalmology, London, UK.
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