Central areolar choroidal dystrophy associated with inherited drusen in a multigeneration Tunisian family: exclusion of the PRPH2 gene and the 17p13 locus.
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.
Ouechtati
Farah
F
Molecular Investigation of Genetic Orphan Diseases, Pasteur Institute, Tunis, Tunisia.
Belhadj Tahar
Olfa
O
Mhenni
Amin
A
Chakroun
Sonia
S
Chouchene
Ibtissem
I
Oueslati
Souad
S
Rebai
Ahmed
A
Abdelhak
Sonia
S
Jeddi-Blouza
Amel
A
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
D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; C578994:PRPH protein, human; C578997:PRPH2 protein, human; D064531:Peripherins