Human Molecular Genetics, Vol 5, 705-708, Copyright © 1996 by Oxford University Press
AJ Lotery, KT Ennis, G Silvestri, S Nicholl, D McGibbon, AD Collins and AE Hughes
Central areolar choroidal dystrophy (CACD) is a rare inherited retinal
disease which causes progressive profound loss of vision in patients during
their 4th decade. We have identified a Northern Irish family with 19
affected individuals in three living generations. We have performed a total
genome search and established linkage of CACD in this family to chromosome
17p (multipoint Zmax = 5.65 at D17S938). The genes for phosphatidylinositol
transfer protein (PITPN), retinal guanylate cyclase (GUC2D), beta-arrestin
2 (ARRB2), pigment epithelium-derived factor (PEDF) and recoverin (RCV1)
map to this region and are candidate genes for retinal disease. Analysis of
the coding region of the PITPN gene failed to reveal any mutation in this
family.
ARTICLES
Localisation of a gene for central areolar choroidal dystrophy to chromosome 17p
Department of Medical Genetics, Queen's University of Belfast, Northern Ireland, UK.
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