Purpose: To identify mutations in KCNV2 in patients with a form of cone dystrophy characterized by a supernormal rod electroretinogram (ERG). Methods: The 2 exons and flanking intron DNA of KCNV2 from 8 unrelated patients were PCR amplified and sequenced. Results: We found 1 frameshift, 2 nonsense, 1 non-stop, and 6 missense mutations. Every patient had one or two mutations identified. Of the missense mutations, 4 affected residues were in the amino terminal region of the protein, and two in the pore region. Conclusions: KCNV2 mutations account for most if not all cases of cone dystrophy with a supernormal rod ERG.
- Gene mutation
- Retinal degeneration
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health