Novel mutations in the GRK1 gene in Japanese patients With Oguchi disease.

Purpose: To report novel mutations in the GRK1 gene in Japanese patients with Oguchi disease.
Design: Observational case report.
Methods: Two unrelated Japanese patients with Oguchi disease were examined. After informed consent was obtained, the coding regions of SAG and GRK1 were analyzed by direct sequencing.
Results: Although no mutation was found in SAG, two novel homozygous mutations in GRK1, c.1079 del T and c.1408-1412 CCCCC to CCC, were identified. Both mutations are expected to generate null alleles of GRK1.
Conclusions: The authors found two different novel mutations in Japanese patients. The results indicate that a considerable number of GRK1 mutations exist in the Japanese population.