PURPOSE: Because several macular dystrophies are caused by mutations in the peripherin/RDS gene, we examined autosomal dominant and sporadic cases of central areolar choroidal dystrophy for mutations in the peripherin/RDS gene. METHODS: DNA sequence analysis of the peripherin/RDS gene was performed in four sporadic cases and in ten affected and nine unaffected individuals from seven families with autosomal dominant central areolar choroidal dystrophy. RESULTS: An Arg-142-Trp mutation in the peripherin/RDS gene was found in ten affected family members in seven families. Among these, a 69-year-old man with the Arg-142-Trp mutation, who was unaffected six years before blood sample analysis, showed a parafoveal area of chorioretinal atrophy. The 65-year-old sister of this family had the Arg-142-Trp mutation with no macular abnormalities, but she might still develop central areolar choroidal dystrophy at an older age. No mutation was found in the four sporadic cases. CONCLUSION: Autosomal dominant central areolar choroidal dystrophy, studied in seven families, is caused by an Arg-142-Trp mutation in the peripherin/RDS gene.
PURPOSE: Because several macular dystrophies are caused by mutations in the peripherin/RDS gene, we examined autosomal dominant and sporadic cases of central areolar choroidal dystrophy for mutations in the peripherin/RDS gene. METHODS: DNA sequence analysis of the peripherin/RDS gene was performed in four sporadic cases and in ten affected and nine unaffected individuals from seven families with autosomal dominant central areolar choroidal dystrophy. RESULTS: An Arg-142-Trp mutation in the peripherin/RDS gene was found in ten affected family members in seven families. Among these, a 69-year-old man with the Arg-142-Trp mutation, who was unaffected six years before blood sample analysis, showed a parafoveal area of chorioretinal atrophy. The 65-year-old sister of this family had the Arg-142-Trp mutation with no macular abnormalities, but she might still develop central areolar choroidal dystrophy at an older age. No mutation was found in the four sporadic cases. CONCLUSION:Autosomal dominant central areolar choroidal dystrophy, studied in seven families, is caused by an Arg-142-Trp mutation in the peripherin/RDS gene.
Authors: B Jeroen Klevering; Marc van Driel; August J M van Hogerwou; Dorien J R van De Pol; August F Deutman; Alfred J L G Pinckers; Frans P M Cremers; Carel B Hoyng Journal: Br J Ophthalmol Date: 2002-01 Impact factor: 4.638
Authors: Z Yang; G Kitsos; Z Tong; M Payne; S Gorezis; K Psilas; M Grigoriadou; Y Zhao; S Kamaya; G Aperis; M B Petersen; K Zhang Journal: J Med Genet Date: 2006-12 Impact factor: 6.318
Authors: C C Klaver; M Kliffen; C M van Duijn; A Hofman; M Cruts; D E Grobbee; C van Broeckhoven; P T de Jong Journal: Am J Hum Genet Date: 1998-07 Impact factor: 11.025