title: Central areolar choroidal dystrophy associated with inherited drusen in a multigeneration Tunisian family: exclusion of the PRPH2 gene and the 17p13 locus.
abstract: Central areolar choroidal dystrophy (CACD) is a rare inherited disease, which causes progressive profound loss of vision in patients during their fourth decade. It is characterized by atrophy of retinal pigment epithelium, photoreceptors and choriocapillaris. The disease showed a genetic heterogeneity. Previously, mutations in the peripherin/RDS gene and a linkage to the CACD locus in the 17p13 region have been reported in CACD families. In this study, we report on a clinical and genetic investigation of CACD in a large Tunisian consanguineous family with 21 affected individuals in three living generations. CACD has been associated with drusen in some of them. Linkage analysis and mutational screening exclude linkage to the PRPH2/RDS gene and to the CACD locus. These data provide further evidence of the genetic heterogeneity of CACD.
authors.affiliation: Molecular Investigation of Genetic Orphan Diseases, Pasteur Institute, Tunis, Tunisia.
authors.forename: Farah
authors.initials: F
authors.lastname: Ouechtati
authors.forename: Olfa
authors.initials: O
authors.lastname: Belhadj Tahar
authors.forename: Amin
authors.initials: A
authors.lastname: Mhenni
authors.forename: Sonia
authors.initials: S
authors.lastname: Chakroun
authors.forename: Ibtissem
authors.initials: I
authors.lastname: Chouchene
authors.forename: Souad
authors.initials: S
authors.lastname: Oueslati
authors.forename: Ahmed
authors.initials: A
authors.lastname: Rebai
authors.forename: Sonia
authors.initials: S
authors.lastname: Abdelhak
authors.forename: Amel
authors.initials: A
authors.lastname: Jeddi-Blouza
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D015862:Choroid Diseases / Q000150:complications / Q000235:genetics*; D002886:Chromosomes, Human, Pair 17; D003241:Consanguinity; D015785:Eye Diseases, Hereditary / Q000235:genetics*; D005190:Family; D005191:Family Characteristics; D005260:Female; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics* / Q000502:physiology; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics* / Q000502:physiology; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics* / Q000502:physiology; D010375:Pedigree; D064531:Peripherins; D015593:Retinal Drusen / Q000150:complications / Q000235:genetics*; D014416:Tunisia
chemical_list: D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; C578994:PRPH protein, human; C578997:PRPH2 protein, human; D064531:Peripherins