Autosomal dominant retinitis pigmentosa with a rhodopsin mutation (Arg-135–Trp): Disease phenotype in a Swedish family

Summary, in English

We here present the clinical phenotype in 6 patients from a family with autosomal dominant retinitis pigmentosa found to carry a point mutation in the rhodopsin gene (arginine-135-tryptophan). The mutation is the second found by mutation screening of DNA from 20 Swedish families with dominant retinitis pigmentosa. With full-field electroretinography we could document a severe form of retinitis pigmentosa in patients belonging to the family, similar to the phenotype associated with the previously reported mutation (arginine-135-leucine). Our results indicate that different point mutations in the same region of the rhodopsin gene, resulting in amino acids with similar properties (both hydrophobic), may cause a similar clinical phenotype. Further, point mutations in this specific region seem to cause an agressive form of retinitis pigmentosa.

• Författare: Vesna Ponjavic; Magnus Abrahamson; Sten Andréasson; Berndt Ehinger; G Fex
• Avdelning/ar: Oftalmologi, Lund; Avdelningen för klinisk kemi och farmakologi
• Publiceringsår: 1997
• Språk: Engelska
• Sidor: 218-223
• Publikation/Tidskrift/Serie: Acta Ophthalmologica Scandinavica
• Volym: 75
• Issue: 2
• Dokumenttyp: Artikel i tidskrift
• Förlag: Wiley
• Ämne: Ophthalmology
• Status: Published
• ISBN/ISSN/Övrigt: ISSN: 1395-3907