Mutations in the gene for the beta subunit of cyclic GMP phosphodiesterase cause retinal dystrophies in man, mice and dog, and mutations in the gene for the structural protein peripherin/RDS result in a retinal dystrophy in the mouse and a spectrum of differing retinal dystrophies in man.
A high frequency (23%) of mutations in the peripherin/RDS gene was found in a cohort of 61 unrelated patients with various types of autosomal dominant central retinal dystrophies as compared with a low prevalence (1.3%) of mutations in this gene causing retinitis pigmentosa in a Spanish population.
To identify suspected RDS mutations in families in which different people have been identified with either generalised retinal dystrophy or macular dystrophy.