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.