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Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness

Nature Genetics volume 15, pages 175–178 (1997)Cite this article

Abstract

Oguchi disease is a recessively inherited form of stationary night blindness due to malfunction of the rod photoreceptor mechanism. Patients with this disease show a distinctive golden-brown colour of the fundus that occurs as the retina adapts to light, called the Mizuo phenomenon. Recently a defect in arrestin, a member of the rod phototransduction pathway, was found to cause this disease in some Japanese patients1. As rhodopsin kinase works with arrestin in shutting off rhodopsin after it has been activated by a photon of light, it is reasonable to propose that some cases of Oguchi disease might be caused by defects in rhodopsin kinase. This report describes an analysis of the arrestin and rhodopsin kinase genes in three unrelated cases of Oguchi disease. No defects in arrestin were detected, but all three cases had mutations in the rhodopsin kinase gene. Two cases were found to be homozygous for a deletion encompassing exon 5, predicted to lead to a nonfunctional protein. The third case was a compound heterozygote with two allelic mutations, a missense mutation (Va1380Asp) affecting a residue in the catalytic domain, and a frameshift mutation (Ser536(4-bp del)) resulting in truncation of the carboxy terminus. Our results indicate that null mutations in the rhodopsin kinase gene are a cause of Oguchi disease and extend the known genetic heterogeneity in congenital stationary night blindness.

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Authors and Affiliations

  1. Ocular Molecular Genetics Institute Harvard Medical School, Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston, Massachusetts, 02114, USA

    Shuji Yamamoto, Kimberly C. Sippel & Thaddeus P. Dryja

  2. Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston, Massachusetts, 02114, USA

    Eliot L. Berson

Authors
  1. Shuji Yamamoto
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  2. Kimberly C. Sippel
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  3. Eliot L. Berson
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  4. Thaddeus P. Dryja
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Correspondence to Thaddeus P. Dryja.

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Yamamoto, S., Sippel, K., Berson, E. et al. Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness. Nat Genet 15, 175–178 (1997). https://doi.org/10.1038/ng0297-175

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