RP1 and retinitis pigmentosa: report of novel mutations and insight into mutational mechanism

Abstract

Background/aim: Retinitis pigmentosa (RP) is the commonest form of retinal dystrophy and is usually inherited as a monogenic trait but with remarkable genetic heterogeneity. RP1 is one of the earliest identified disease genes in RP with mutations in this gene known to act both recessively and dominantly although the mutational mechanism remains unclear. This study is part of our ongoing effort to characterise RP in Saudi Arabia at the molecular level.

Methods: Homozygosity mapping and candidate gene analysis.

Results: The authors have identified four novel mutations, all recessive, in a number of families with a typical RP phenotype.

Conclusion: The distribution of these novel and previously reported RP1 mutations makes it challenging to describe a unifying mutational mechanism for dominant versus recessive RP1-related RP.