Oguchi disease

A congenital form of static night blindness; all other visual functions, including visual acuity, visual field, and color vision, are usually normal. It is also characterized by diffuse yellow or gray coloration of the fundus. After 2 or 3 hours in total darkness, the normal color of the fundus returns. Oguchi Disease-1 is associated with mutations in the SAG gene. OMIM: 258100

Also Known As:

Networked: 34 relevant articles (0 outcomes, 2 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Night Blindness (Nyctalopia)
2.	Retinitis Pigmentosa (Pigmentary Retinopathy)
3.	congenital stationary Night blindness
4.	Retinal Degeneration
5.	Fundus Albipunctatus

Experts

1.	Hayashi, Takaaki: 3 articles (01/2021 - 01/2007)
2.	Webster, Andrew R: 2 articles (01/2021 - 12/2012)
3.	Ikeda, Yasuhiro: 2 articles (11/2019 - 12/2006)
4.	Azam, Maleeha: 2 articles (01/2012 - 09/2009)
5.	Cremers, Frans P M: 2 articles (01/2012 - 09/2009)
6.	Qamar, Raheel: 2 articles (01/2012 - 09/2009)
7.	Guidolin, Francesca: 1 article (11/2022)
8.	Longhin, Evelyn: 1 article (11/2022)
9.	Midena, Edoardo: 1 article (11/2022)
10.	Nacci, Elisabetta Beatrice: 1 article (11/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Oguchi disease:

1.	G-Protein-Coupled Receptor Kinase 1 (G Protein-Coupled Receptor Kinase 1)IBA 01/01/2007 - "The objective of this study was to describe the ophthalmic features and a novel mutation in the GRK1 (rhodopsin kinase) gene in 2 Japanese patients with Oguchi disease. " 01/01/2021 - "Biallelic mutations in G-Protein coupled receptor kinase 1 (GRK1) cause Oguchi disease, a rare subtype of congenital stationary night blindness (CSNB). " 02/01/1997 - "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." 11/01/2004 - "We examined the arrestin gene and the rhodopsin kinase gene in 5 unrelated patients with Oguchi disease, and found arrestin gene mutations in 4 of them and a rhodopsin kinase gene mutation in the fifth patient. " 02/01/1997 - "This report describes an analysis of the arrestin and rhodopsin kinase genes in three unrelated cases of Oguchi disease. "
2.	Retinaldehyde (Retinal)IBA 11/01/2022 - "The present study aimed to report an Italian patient affected by Oguchi disease, evaluated by means of a multimodal retinal imaging study and harboring two novel heterozygous pathogenic variants in the SAG gene. " 11/01/2022 - "Two novel compound heterozygous SAG mutations in an Italian patient with Oguchi disease: A genetic and multimodal retinal imaging study." 11/01/2019 - "Similarly, the visual field in the retinal area was preserved in Oguchi disease patients (mean, 677 mm2 right eye and 667 mm2 left eye) and reduced in RP patients (mean, 369 mm2 right eye and 294 mm2 left eye). " 12/01/2012 - "Our finding that rods, but not cones, change intensity after dark adaptation suggests that fundus changes in Oguchi disease are the result of changes within the rods as opposed to changes at a different retinal locus." 09/01/2009 - "To report the changes in the optical coherence tomography (OCT) images of the outer retinal layers after prolonged dark adaptation in a patient with Oguchi disease. "
3.	ArrestinIBA 06/01/1999 - "Mutations in the arrestin are common in Japanese patients with Oguchi disease." 06/01/1999 - "We examined the sequence of the arrestin gene in two unrelated patients with Oguchi disease. " 06/01/1999 - "1147 del A mutation in the arrestin gene in Japanese patients with Oguchi disease." 02/01/1998 - "Our case provides further evidence of the close association of 1147delA in the arrestin gene in Japanese patients with Oguchi disease. " 01/01/1998 - "Two Indian siblings with Oguchi disease are homozygous for an arrestin mutation encoding premature termination."
4.	AntigensIBA 05/01/1995 - "Collectively, these findings support the hypothesis that a defect in S antigen may be responsible for Oguchi disease." 11/01/2019 - "Phenotypic Features of Oguchi Disease and Retinitis Pigmentosa in Patients with S-Antigen Mutations: A Long-Term Follow-up Study." 01/01/2012 - "A nonsense mutation in S-antigen (p.Glu306*) causes Oguchi disease." 12/06/2006 - "Mutation 926delA of the arrestin/S-antigen SAG gene is the main cause of Oguchi disease in the Japanese. " 07/01/2004 - "To analyze mutations of the arrestin/S-antigen (SAG) gene in nine newly identified Oguchi disease patients, and to examine whether the 926delA (formerly called 1147delA) mutation in the SAG gene is inherited from a single founder. "
5.	Nonsense Codon (Nonsense Mutation)IBA 08/01/2011 - "Mizuo-Nakamura phenomenon in Oguchi disease due to a homozygous nonsense mutation in the SAG gene." 09/05/2009 - "Genetic mapping supported the diagnosis of typical Oguchi disease in a Pakistani family and also resulted in the identification of a novel nonsense mutation (c.614C>A; p.S205X) in exon 1 of GRK1. " 01/01/2012 - "A nonsense mutation in S-antigen (p.Glu306*) causes Oguchi disease."
6.	Rhodopsin (Visual Purple)IBA 05/01/2006 - "For example, in Oguchi disease, excessive rhodopsin stimulation due to a functional loss of GRK1 or arrestin 1 leads to light sensitization and stationary night blindness. " 02/01/1997 - "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. " 01/01/1998 - "The stationary night blindness of Oguchi disease, associated with null mutations in the genes for arrestin or rhodopsin kinase, presumably results from impaired rhodopsin deactivation, like that revealed by the experiments on transgenic animals."
7.	Proteins (Proteins, Gene)FDA Link 01/01/2021 - "We identified GRK1 variants in Oguchi disease patients and investigated how disease-causing variants may impede protein function in-silico." 02/01/1998 - "Coexpression of both phenotypes of Oguchi disease and retinitis pigmentosa may suggest the possible involvement of additional defects of genes encoding the phototransduction proteins."
8.	NucleotidesIBA 07/01/1995 - "Here we report that in five out of six unrelated Japanese patients with Oguchi disease, we have identified a homozygous deletion of nucleotide 1147 (1147delA) in codon 309 of the arrestin gene, predicting a shift in the reading frame and a premature termination of translation which may result in 'functional null alleles.'" 01/01/1997 - "To characterize clinical features of patients with Oguchi disease associated with a homozygous deletion of adenine at nucleotide 1147 (1147delA) in codon 309 in the arrestin gene. "
9.	Codon (Codons)IBA 07/01/1995 - "Here we report that in five out of six unrelated Japanese patients with Oguchi disease, we have identified a homozygous deletion of nucleotide 1147 (1147delA) in codon 309 of the arrestin gene, predicting a shift in the reading frame and a premature termination of translation which may result in 'functional null alleles.'" 01/01/1997 - "To characterize clinical features of patients with Oguchi disease associated with a homozygous deletion of adenine at nucleotide 1147 (1147delA) in codon 309 in the arrestin gene. "
10.	AdenineFDA LinkGeneric 02/01/1998 - "To report a Japanese patient with Oguchi disease and sectoral retinitis pigmentosa harboring a homozygous adenine deletion at position 1147 (1147delA) in the arrestin gene. " 02/01/1998 - "Oguchi disease with sectoral retinitis pigmentosa harboring adenine deletion at position 1147 in the arrestin gene." 01/01/1997 - "To characterize clinical features of patients with Oguchi disease associated with a homozygous deletion of adenine at nucleotide 1147 (1147delA) in codon 309 in the arrestin gene. "

Therapies and Procedures

1.	Lasers (Laser) 09/01/2000 - "Mizuo phenomenon observed by scanning laser ophthalmoscopy in a patient with Oguchi disease." 09/01/2000 - "The white particles found by helium-neon laser could be the origin of the abnormal fundus reflex in Oguchi disease."