Donate Contact Us The Foundation Homepage Donate Contact Us The Foundation Homepage

Text Only | Macular Degeneration | Retinitis Pigmentosa | Usher | Stargardt | Other Retinal Diseases
Foundation Fighting Blindness HomepageCharlotte Isen Continues To Support FFBHow You Can Help
About Us
Macular Degeneration
Retinitis Pigmentosa
Stargardt Disease
Usher Syndrome
Science and Research
Advocacy Center
Resource Center
Upcoming Events
Local Chapters
Press Room
Career Opportunities
Community Center
Free Information

National Neurovision Research Institute

Click here for more information.

Online Newsletter
Sign Up Here

Speaker Icon Microsoft WebSpeak has been installed to read content on this site aloud. When you see this speaker icon, use your mouse to click on it and the wizard will be activated.

Login | Register | Send To A Friend

Printer Friendly Version
Oguchi Disease

The characteristics are congenital, static hemeralopia and diffuse yellow or gray coloration of the fundus. After 2 or 3 hours in total darkness, the normal color of the fundus returns. The condition is more frequent in Japanese. See hemeralopia (310500) for a comment on the use of this term, as opposed to the term nyctalopia.

Maw et al. (1995) referred to Oguchi disease as a rare autosomal recessive form of congenital stationary night blindness, associated with fundus discoloration and abnormally slow dark adaptation. A plausible candidate gene for Oguchi disease is that encoding S antigen, also known as arrestin (SAG; 181031). This gene encodes a 48-kD protein that may be involved in the recovery phase of light transduction (Palczewski et al., 1989; Palczewski et al., 1992). The SAG gene had been previously been mapped to 2q37.1 by fluorescence in situ hybridization. Maw et al. (1995) found linkage of Oguchi disease to markers that mapped to distal 2q in an inbred Indian kindred. The segregation data suggested that 3 affected sisters were homozygous by descent for a region between D2S172 and D2S345. An intragenic SAG polymorphism was homozygous in all affected persons and a recombination event suggested that SAG maps proximal to D2S345. Collectively, the finding supported the suggestion that a defect in S antigen is responsible for Oguchi disease.

Because the arrestin gene maps to the same region of 2q as Oguchi disease and because it encodes a rod photoreceptor implicated in the recovery phase of light transduction, SAG was a candidate gene for the site of the mutation in this disorder. Fuchs et al. (1995) identified a homozygous deletion in 5 of 6 unrelated Japanese patients with Oguchi disease (181031.0001).

Because rhodopsin kinase (RHOK; 180381) works with arrestin in shutting off rhodopsin after it has been activated by a photon of light, it was reasonable to propose that some cases of Oguchi disease may be caused by defects in rhodopsin kinase. Yamamoto et al. (1997) analyzed the arrestin and rhodopsin kinase genes in 3 unrelated cases of Oguchi disease. No defects in arrestin were detected, but all 3 cases had mutations in the RHOK gene (e.g., 180381.0001).


Eyes :
Static hemeralopia
Congenital hemeralopia
Yellow fundus
Gray fundus

Inheritance :
Autosomal recessive



Bobby WorldWide Approved A

Home | Viewing This Site | Send To A Friend | Privacy Statement | Back to Top

   American Legion Child Welfare Foundation, Inc.

©2007 Foundation Fighting Blindness. All rights reserved.