Details

Autor(en) / Beteiligte

• Grüning, Gunnar
• Millan, José M.
• Meins, Moritz
• Beneyto, Magdalena
• Caballero, Manuel
• Apfelstedt-Sylla, Eckart
• Bosch, Rosabel
• Zrenner, Eberhart
• Prieto, Felix
• Gal, Andreas

Titel

Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa

Ist Teil von

• Human mutation, 1994, Vol.3 (3), p.321-323

Ort / Verlag

New York: Wiley Subscription Services, Inc., A Wiley Company

Erscheinungsjahr

1994

Quelle

MEDLINE

Beschreibungen/Notizen

• Peripherin/rds is a membrane-associated glycoprotein present exclusively in photoreceptor outer segment disks. The peripherin/rds gene is expressed both in rods and cones, and the protein is thought to play an important role in maintaining the structural stability in each class of photoreceptors. In mice, an insertion of approximately 10 kb of repetitive mouse DNA into an exon of the peripherin/rds gene leads to an abnormal development of rods and cones, followed by slow degeneration of the photoreceptors (retinal degeneration slow = rds). The retinal phenotype associated with this semidominant mutation resembles that seen in some forms of hereditary retinal degenerations in humans and, therefore, rds mice may represent an animal model for these disorders. Indeed, mutations in the human peripherin/rds gene have recently been implicated in the pathogenesis of both autosomal dominant retinitis pigmentosa (RP) and various forms of macular dystrophy. We describe two patients with autosomal dominant RP and mutations in the peripherin/rds gene.