Central areolar choroidal dystrophy associated with inherited drusen in a multigeneration Tunisian family: exclusion of the PRPH2 gene and the 17p13 locus

Farah Ouechtati (1, 2, 3) , Olfa Belhadj Tahar (3, 4) , Amin Mhenni (4) , Sonia Chakroun (2) , Ibtissem Chouchene (1, 2) , Ahmed Rebai (5) , Souad Oueslati (6) , Sonia Abdelhak (1) , Amel Jeddi-Blouza (4)

1 Institut Pasteur de Tunis
2 Oculogenetics Unit, Hedi Rais
3 These authors contributed equally to this work
4 Department of Ophthalmology
5 Unit of Bioinformatics
6 U05/UR08-02 Inherited Neurological Child Diseases

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. Journal of Human Genetics (2009) 54, 589-594; doi:10.1038/jhg.2009.82; published online 21 August 2009

Keywords: CACD locus; central areolar choroidal dystrophy; linkage analysis; peripherin; RDS gene

Domains: Life Sciences [q-bio]

Farah Ouechtati, Olfa Belhadj Tahar, Amin Mhenni, Sonia Chakroun, Ibtissem Chouchene, et al.. Central areolar choroidal dystrophy associated with inherited drusen in a multigeneration Tunisian family: exclusion of the PRPH2 gene and the 17p13 locus. Journal of Human Genetics, 2009, 54 (10), pp.589-594. ⟨10.1038/jhg.2009.82⟩. ⟨pasteur-01375318⟩