Titre du document / Document title

Autosomal dominant central areolar choroidal dystrophy caused by a mutation in codon 142 in the peripherin/RDS gene

Auteur(s) / Author(s)

HOYNG C. B. ⁽¹⁾ ; HEUTINK P. ; TESTERS L. ; PINCKERS A. ⁽¹⁾ ; DEUTMAN A. F. ⁽¹⁾ ; OOSTRA B. A. ;

Affiliation(s) du ou des auteurs / Author(s) Affiliation(s)

⁽¹⁾ Institute of Ophthalmology, University of Nijmegen, PAYS-BAS

Résumé / Abstract

. 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-TFp 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.

Revue / Journal Title

American journal of ophthalmology   ISSN 0002-9394   CODEN AJOPAA 

Source / Source

1996, vol. 121, n^o6, pp. 623-629 (18 ref.)

Langue / Language

Anglais

Editeur / Publisher

Elsevier, New York, NY, ETATS-UNIS  (1884) (Revue)

Mots-clés anglais / English Keywords

Sorsby macular degeneration ; Mutation ; Genetic inheritance ; Family study ; Human ; Autosomal character ; Dominant character ; Eye disease ; Retinopathy ; Genetic disease ;

Mots-clés français / French Keywords

Dégénérescence maculaire pseudoinflammatoire Sorsby ; Mutation ; Déterminisme génétique ; Etude familiale ; Homme ; Caractère autosomique ; Caractère dominant ; Gène RDS ; Périphérine ; Oeil pathologie ; Rétinopathie ; Maladie héréditaire ;

Mots-clés espagnols / Spanish Keywords

Degeneración macular seudoinflamatoria Sorsby ; Mutación ; Determinismo genético ; Estudio familiar ; Hombre ; Carácter autosómico ; Carácter dominante ; Ojo patología ; Retinopatía ; Enfermedad hereditaria ;

Localisation / Location

INIST-CNRS, Cote INIST : 2012, 35400006047527.0030