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Screening of the Gene Encoding the '-Subunit of Cone cGMP-PDE in Patients with Retinal Degenerations

¹ From the Jules Stein Eye Institute, University of California Los Angeles School of Medicine; ² Loyola Marymount University, Los Angeles, California; the ³ Department of Ophthalmology, University of Iowa, Iowa City; the ⁴ University of Illinois at Chicago; the ⁵ Casey Eye Institute, Oregon Health Sciences University, Portland; the ⁶ Scheie Eye Institute, University of Pennsylvania, Philadelphia; and the ⁷ Molecular Biology Institute, University of California Los Angeles.

PURPOSE. To screen the exons of the gene encoding the '-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).

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