Abstract
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.
Publication types
-
Comparative Study
-
Research Support, Non-U.S. Gov't
MeSH terms
-
Arrestins / genetics
-
Base Sequence
-
Calcium-Binding Proteins / genetics
-
Carrier Proteins / genetics
-
Choroid Diseases / genetics*
-
Chromosomes, Human, Pair 17*
-
Databases, Factual
-
Eye Proteins*
-
Genetic Linkage
-
Guanylate Cyclase / genetics
-
Hippocalcin
-
Humans
-
Lipoproteins*
-
Membrane Proteins*
-
Microsatellite Repeats
-
Molecular Sequence Data
-
Nerve Growth Factors*
-
Nerve Tissue Proteins*
-
Pedigree
-
Phospholipid Transfer Proteins
-
Point Mutation
-
Polymerase Chain Reaction
-
Polymorphism, Genetic
-
Proteins / genetics
-
Recoverin
-
Retina / enzymology
-
Serpins / genetics
-
beta-Arrestin 2
-
beta-Arrestins
Substances
-
ARRB2 protein, human
-
Arrestins
-
Calcium-Binding Proteins
-
Carrier Proteins
-
Eye Proteins
-
Lipoproteins
-
Membrane Proteins
-
Nerve Growth Factors
-
Nerve Tissue Proteins
-
Phospholipid Transfer Proteins
-
Proteins
-
RCVRN protein, human
-
Serpins
-
beta-Arrestin 2
-
beta-Arrestins
-
pigment epithelium-derived factor
-
Recoverin
-
Hippocalcin
-
Guanylate Cyclase