MCID: HRD015
MIFTS: 35

Hereditary Night Blindness

Categories: Rare diseases, Eye diseases, Metabolic diseases

Aliases & Classifications for Hereditary Night Blindness

MalaCards integrated aliases for Hereditary Night Blindness:

Name: Hereditary Night Blindness 12 15
Oguchi's Disease 12 29 6
Oguchi Disease 53 59 73
Congenital Stationary Night Blindness, Oguchi Type 59
Stationary Night Blindness, Oguchi Type 53
Night Blindness, Congenital Stationary 73
Congenital Night Blindness 12
Oguchi Syndrome 59
Oguchis Disease 55

Characteristics:

Orphanet epidemiological data:

59
oguchi disease
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:8498
ICD10 33 H53.63
ICD9CM 35 368.61
MeSH 44 C537743
Orphanet 59 ORPHA75382
MESH via Orphanet 45 C537743
UMLS via Orphanet 74 C1306122
ICD10 via Orphanet 34 H53.6

Summaries for Hereditary Night Blindness

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 75382Disease definitionOguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness (see this term) and the Mizuo-Nakamura phenomenon.EpidemiologyOguchi disease is a very rare condition with approximately 50 cases described in the literature to date. It was originally discovered in Japan where the prevalence is the highest but has been found occasionally in European, American, Pakistani and Indian patients.Clinical descriptionThe disease is characterized by congenital stationary night blindness and the Mizuo-Nakamura phenomenon which is a unique morphological and functional abnormality of the retina that presents with a typical golden-yellow or silver-gray discoloration of the fundus in the presence of light that disappears after dark-adaptation and appears again after the onset of light. Patients have non progressive night blindness since young childhood with normal day vision, but they often claim improvement of light sensitivities when they remain a long time in a dark environment. Eye fundus shows the Mizuo-Nakamura phenomenon as the only fundus feature. A prolonged dark adaptation of 3 hours or more leads to disappearance of the Mizuo-Nakamura phenomenon fundus changes. No evidence of spicules, macular changes or chorioretinal atrophy is observed. Normal visual acuity, normal caliber of retinal blood vessels and usually normal cone response on electroretinogram (ERG) recording suggest retinal dysfunction rather than degeneration.EtiologyOguchi disease is caused by mutations in the SAG gene coding for arrestin located on chromosome 2q37(Oguchi type 1) or by mutations in the GRK1 gene that codes for the rhodopsin kinase located on the chromosome 13q34 (Oguchi type 2). Remarkably, some mutations in the SAG gene are associated with Oguchi disease and retinitis pigmentosa (RP) in the same family. Some mutations in SAG lead to RP.Diagnostic methodsThe diagnosis is clinical and is based on the presence of night blindness and the observation of the Mizuo-Nakamura phenomenon by funduscopy and electroretinography (ERG). The clinical diagnosis is confirmed by genetic testing.Differential diagnosisThe differential diagnosis includes Stargardt disease, RP in female carriers, juvenile retinoschisis, and progressive cone dystrophy (see these terms). All these conditions may have fundus changes but without the classical Mizuo-Nakamura phenomenon.Genetic counselingOguchi disease is an autosomal recessive condition. Brothers and sisters of an affected case have a 25% risk to be also affected.Management and treatmentTo date, there is not a specific treatment for Oguchi disease.PrognosisIn Oguchi disease the visual prognosis is good in absence of progression of symptoms. Although Oguchi disease is categorized as a stationary condition it can lead to reduced visual acuity or constricted visual fields, especially in older patients.Visit the Orphanet disease page for more resources.

MalaCards based summary : Hereditary Night Blindness, also known as oguchi's disease, is related to night blindness and oguchi disease 1. An important gene associated with Hereditary Night Blindness is SAG (S-Antigen Visual Arrestin), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Phototransduction. Affiliated tissues include eye, retina and testes, and related phenotypes are nervous system and vision/eye

Related Diseases for Hereditary Night Blindness

Graphical network of the top 20 diseases related to Hereditary Night Blindness:



Diseases related to Hereditary Night Blindness

Symptoms & Phenotypes for Hereditary Night Blindness

MGI Mouse Phenotypes related to Hereditary Night Blindness:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.43 CACNA1F CACNA2D3 GRK1 GRM6 RHO SAG
2 vision/eye MP:0005391 9.17 CACNA1F GRK1 GRM6 NYX RDH5 RHO

Drugs & Therapeutics for Hereditary Night Blindness

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940

Search NIH Clinical Center for Hereditary Night Blindness

Genetic Tests for Hereditary Night Blindness

Genetic tests related to Hereditary Night Blindness:

# Genetic test Affiliating Genes
1 Oguchi's Disease 29 SAG

Anatomical Context for Hereditary Night Blindness

MalaCards organs/tissues related to Hereditary Night Blindness:

41
Eye, Retina, Testes

Publications for Hereditary Night Blindness

Articles related to Hereditary Night Blindness:

# Title Authors Year
1
A Chinese family with Oguchi's disease due to compound heterozygosity including a novel deletion in the arrestin gene. ( 22419846 )
2012
2
Novel mutations in the arrestin gene and associated clinical features in Japanese patients with Oguchi's disease. ( 15234147 )
2004
3
A case of a combination of Oguchi's disease and congenital retinoschisis. ( 9693296 )
1998
4
Normal S cone electroretinogram b-wave in Oguchi's disease. ( 9497461 )
1997
5
Oguchi's disease and night blindness. ( 307531 )
1977
6
An objective test for hereditary night blindness in Irish setters. ( 14898502 )
1951

Variations for Hereditary Night Blindness

ClinVar genetic disease variations for Hereditary Night Blindness:

6
(show top 50) (show all 54)
# Gene Variation Type Significance SNP ID Assembly Location
1 SAG NM_000541.4(SAG): c.926delA (p.Asn309Thrfs) deletion Pathogenic rs587776778 GRCh37 Chromosome 2, 234243727: 234243727
2 SAG NM_000541.4(SAG): c.926delA (p.Asn309Thrfs) deletion Pathogenic rs587776778 GRCh38 Chromosome 2, 233335081: 233335081
3 SAG NM_000541.4(SAG): c.577C> T (p.Arg193Ter) single nucleotide variant Pathogenic rs201153410 GRCh37 Chromosome 2, 234237188: 234237188
4 SAG NM_000541.4(SAG): c.577C> T (p.Arg193Ter) single nucleotide variant Pathogenic rs201153410 GRCh38 Chromosome 2, 233328542: 233328542
5 SAG NM_000541.4(SAG): c.874C> T (p.Arg292Ter) single nucleotide variant Pathogenic rs397514681 GRCh37 Chromosome 2, 234243675: 234243675
6 SAG NM_000541.4(SAG): c.874C> T (p.Arg292Ter) single nucleotide variant Pathogenic rs397514681 GRCh38 Chromosome 2, 233335029: 233335029
7 SAG NM_000541.4(SAG): c.916G> T (p.Glu306Ter) single nucleotide variant Pathogenic rs397514682 GRCh37 Chromosome 2, 234243717: 234243717
8 SAG NM_000541.4(SAG): c.916G> T (p.Glu306Ter) single nucleotide variant Pathogenic rs397514682 GRCh38 Chromosome 2, 233335071: 233335071
9 SAG NM_000541.4(SAG): c.523C> T (p.Arg175Ter) single nucleotide variant Pathogenic rs587777209 GRCh37 Chromosome 2, 234237134: 234237134
10 SAG NM_000541.4(SAG): c.523C> T (p.Arg175Ter) single nucleotide variant Pathogenic rs587777209 GRCh38 Chromosome 2, 233328488: 233328488
11 SAG NM_000541.4(SAG): c.301G> A (p.Ala101Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs141521563 GRCh37 Chromosome 2, 234229395: 234229395
12 SAG NM_000541.4(SAG): c.301G> A (p.Ala101Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs141521563 GRCh38 Chromosome 2, 233320749: 233320749
13 SAG NM_000541.4(SAG): c.375+11C> T single nucleotide variant Benign/Likely benign rs74356516 GRCh37 Chromosome 2, 234229480: 234229480
14 SAG NM_000541.4(SAG): c.375+11C> T single nucleotide variant Benign/Likely benign rs74356516 GRCh38 Chromosome 2, 233320834: 233320834
15 SAG NM_000541.4(SAG): c.468C> T (p.Phe156=) single nucleotide variant Uncertain significance rs375593027 GRCh37 Chromosome 2, 234235799: 234235799
16 SAG NM_000541.4(SAG): c.468C> T (p.Phe156=) single nucleotide variant Uncertain significance rs375593027 GRCh38 Chromosome 2, 233327153: 233327153
17 SAG NM_000541.4(SAG): c.875G> A (p.Arg292Gln) single nucleotide variant Uncertain significance rs554322769 GRCh37 Chromosome 2, 234243676: 234243676
18 SAG NM_000541.4(SAG): c.875G> A (p.Arg292Gln) single nucleotide variant Uncertain significance rs554322769 GRCh38 Chromosome 2, 233335030: 233335030
19 SAG NM_000541.4(SAG): c.1207G> A (p.Val403Ile) single nucleotide variant Benign rs1046974 GRCh37 Chromosome 2, 234255547: 234255547
20 SAG NM_000541.4(SAG): c.1207G> A (p.Val403Ile) single nucleotide variant Benign rs1046974 GRCh38 Chromosome 2, 233346901: 233346901
21 SAG NM_000541.4(SAG): c.-11G> A single nucleotide variant Uncertain significance rs754551985 GRCh38 Chromosome 2, 233309179: 233309179
22 SAG NM_000541.4(SAG): c.-11G> A single nucleotide variant Uncertain significance rs754551985 GRCh37 Chromosome 2, 234217825: 234217825
23 SAG NM_000541.4(SAG): c.226A> G (p.Ile76Val) single nucleotide variant Likely benign rs7565275 GRCh38 Chromosome 2, 233320674: 233320674
24 SAG NM_000541.4(SAG): c.226A> G (p.Ile76Val) single nucleotide variant Likely benign rs7565275 GRCh37 Chromosome 2, 234229320: 234229320
25 SAG NM_000541.4(SAG): c.820C> T (p.Pro274Ser) single nucleotide variant Uncertain significance rs369789189 GRCh37 Chromosome 2, 234243621: 234243621
26 SAG NM_000541.4(SAG): c.820C> T (p.Pro274Ser) single nucleotide variant Uncertain significance rs369789189 GRCh38 Chromosome 2, 233334975: 233334975
27 SAG NM_000541.4(SAG): c.1167T> A (p.Asp389Glu) single nucleotide variant Uncertain significance rs199798289 GRCh37 Chromosome 2, 234255507: 234255507
28 SAG NM_000541.4(SAG): c.1167T> A (p.Asp389Glu) single nucleotide variant Uncertain significance rs199798289 GRCh38 Chromosome 2, 233346861: 233346861
29 SAG NM_000541.4(SAG): c.*7C> T single nucleotide variant Likely benign rs692 GRCh37 Chromosome 2, 234255565: 234255565
30 SAG NM_000541.4(SAG): c.*7C> T single nucleotide variant Likely benign rs692 GRCh38 Chromosome 2, 233346919: 233346919
31 SAG NM_000541.4(SAG): c.*89C> T single nucleotide variant Likely benign rs78338185 GRCh37 Chromosome 2, 234255647: 234255647
32 SAG NM_000541.4(SAG): c.*89C> T single nucleotide variant Likely benign rs78338185 GRCh38 Chromosome 2, 233347001: 233347001
33 SAG NM_000541.4(SAG): c.*98G> A single nucleotide variant Uncertain significance rs184255686 GRCh37 Chromosome 2, 234255656: 234255656
34 SAG NM_000541.4(SAG): c.*98G> A single nucleotide variant Uncertain significance rs184255686 GRCh38 Chromosome 2, 233347010: 233347010
35 SAG NM_000541.4(SAG): c.-331G> T single nucleotide variant Uncertain significance rs752812406 GRCh38 Chromosome 2, 233307720: 233307720
36 SAG NM_000541.4(SAG): c.-331G> T single nucleotide variant Uncertain significance rs752812406 GRCh37 Chromosome 2, 234216366: 234216366
37 SAG NM_000541.4(SAG): c.-278A> G single nucleotide variant Uncertain significance rs886055799 GRCh38 Chromosome 2, 233307773: 233307773
38 SAG NM_000541.4(SAG): c.-278A> G single nucleotide variant Uncertain significance rs886055799 GRCh37 Chromosome 2, 234216419: 234216419
39 SAG NM_000541.4(SAG): c.1208T> C (p.Val403Ala) single nucleotide variant Benign rs1046976 GRCh37 Chromosome 2, 234255548: 234255548
40 SAG NM_000541.4(SAG): c.1208T> C (p.Val403Ala) single nucleotide variant Benign rs1046976 GRCh38 Chromosome 2, 233346902: 233346902
41 SAG NM_000541.4(SAG): c.201C> T (p.Cys67=) single nucleotide variant Likely benign rs72976383 GRCh38 Chromosome 2, 233320649: 233320649
42 SAG NM_000541.4(SAG): c.201C> T (p.Cys67=) single nucleotide variant Likely benign rs72976383 GRCh37 Chromosome 2, 234229295: 234229295
43 SAG NM_000541.4(SAG): c.489C> T (p.Ala163=) single nucleotide variant Likely benign rs2304773 GRCh37 Chromosome 2, 234235820: 234235820
44 SAG NM_000541.4(SAG): c.489C> T (p.Ala163=) single nucleotide variant Likely benign rs2304773 GRCh38 Chromosome 2, 233327174: 233327174
45 SAG NM_000541.4(SAG): c.838A> G (p.Lys280Glu) single nucleotide variant Uncertain significance rs373986650 GRCh37 Chromosome 2, 234243639: 234243639
46 SAG NM_000541.4(SAG): c.838A> G (p.Lys280Glu) single nucleotide variant Uncertain significance rs373986650 GRCh38 Chromosome 2, 233334993: 233334993
47 SAG NM_000541.4(SAG): c.-223C> G single nucleotide variant Uncertain significance rs140569105 GRCh38 Chromosome 2, 233307828: 233307828
48 SAG NM_000541.4(SAG): c.-223C> G single nucleotide variant Uncertain significance rs140569105 GRCh37 Chromosome 2, 234216474: 234216474
49 SAG NM_000541.4(SAG): c.321G> C (p.Leu107=) single nucleotide variant Likely benign rs59676190 GRCh38 Chromosome 2, 233320769: 233320769
50 SAG NM_000541.4(SAG): c.321G> C (p.Leu107=) single nucleotide variant Likely benign rs59676190 GRCh37 Chromosome 2, 234229415: 234229415

Expression for Hereditary Night Blindness

Search GEO for disease gene expression data for Hereditary Night Blindness.

Pathways for Hereditary Night Blindness

GO Terms for Hereditary Night Blindness

Cellular components related to Hereditary Night Blindness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor inner segment GO:0001917 9.16 RHO SAG
2 photoreceptor disc membrane GO:0097381 8.96 GRK1 RHO
3 photoreceptor outer segment GO:0001750 8.8 CACNA1F RHO SAG

Biological processes related to Hereditary Night Blindness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 retina development in camera-type eye GO:0060041 9.46 GRM6 RHO
2 retinoid metabolic process GO:0001523 9.43 RDH5 RHO
3 regulation of rhodopsin mediated signaling pathway GO:0022400 9.43 GRK1 RHO SAG
4 response to stimulus GO:0050896 9.43 CACNA1F GRK1 GRM6 NYX RDH5 RHO
5 cardiac conduction GO:0061337 9.4 CACNA1F CACNA2D3
6 detection of light stimulus involved in visual perception GO:0050908 9.37 CACNA1F GRM6
7 rhodopsin mediated signaling pathway GO:0016056 9.33 GRK1 RHO SAG
8 sensory perception of light stimulus GO:0050953 9.32 GRM6 RHO
9 visual perception GO:0007601 9.1 CACNA1F GRK1 GRM6 NYX RDH5 RHO

Molecular functions related to Hereditary Night Blindness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium channel activity GO:0005262 8.62 CACNA1F CACNA2D3

Sources for Hereditary Night Blindness

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....