Purpose. To screen the exons of the gene encoding the α'-subunit of cone cyclic guanosine monophosphate (cGMP)-phosphodiesterase (PDE6C) for mutations in a group of 456 unrelated patients with various forms of inherited retinal disease, including cone dystrophy, cone-rod dystrophy, macular dystrophy, and simplex/multiplex and autosomal recessive retinitis pigmentosa. Methods. The 22 exons of the PDE6C gene were screened for mutations either by denaturing gradient gel electrophoresis and single- strand conformation polymorphism electrophoresis (SSCP) or by SSCP alone; variants were sequenced directly. Results. Although many sequence variants were found, none could be associated with disease. Conclusions. The results show that PDE6C was not the site of the mutations responsible for the types of inherited retinal degenerations analyzed in the large population of patients in the present study. The types of degeneration included those that predominantly affect cone-mediated function (cone and cone-rod dystrophies) or rod-mediated function (retinitis pigmentosa) or that have a predilection for disease in the macula (macular dystrophies).
|Number of pages
|Investigative Ophthalmology and Visual Science
|Published - 1999
ASJC Scopus subject areas
- Sensory Systems
- Cellular and Molecular Neuroscience