Oguchi Disease 1

Description

Oguchi disease is a rare autosomal recessive form of congenital stationary night blindness in which all other visual functions, including visual acuity, visual field, and color vision, are usually normal. A typical feature of the disease is a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and reappears shortly after the onset of light (Mizuo phenomenon, or Mizuo-Nakamura phenomenon). The course of dark adaptation of rod photoreceptors is extremely retarded, whereas that of cones appears to proceed normally (summary by Fuchs et al., 1995). Genetic Heterogeneity of Oguchi DiseaseOguchi disease-2 (CSNBO2) is caused by mutation in the rhodopsin kinase gene (GRK1 ) on chromosome 13q34.

Clinical Features

Phenotypes and symptoms related to Oguchi Disease 1

  • Blindness
  • Nyctalopia
  • Macular degeneration
  • Congenital stationary night blindness
  • Hemeralopia
  • Vitreous floaters

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Oguchi Disease 1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
100 %
SAG Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

SAG
Specificity
100 %
Genes
50 %
SAG Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

SAG
Specificity
100 %
Genes
50 %
SAG Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

SAG
Specificity
100 %
Genes
50 %
SAG Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

SAG
Specificity
100 %
Genes
50 %
Congenital Stationary Night Blindness Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

CACNA1F, SAG, RHO, PDE6B, SLC24A1, GRK1, TRPM1, GNAT1, CABP4, NYX, GRM6, RDH5, GNB3, LRIT3, GPR179
Specificity
14 %
Genes
100 %
Retinitis Pigmentosa Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

ABHD12, ZNF513, AIPL1, BEST1, NEUROD1, SPATA7, PRKCG, CHM, RP1, ABCA4, MFRP, ARL6, CEP290, CLRN1, TTC8, USH2A, PRPH2, TULP1, SAG, RPGRIP1 , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
50 %
SAG.

By Institute for Human Genetics University Clinic Freiburg in Germany.

SAG
Specificity
100 %
Genes
50 %
Retinitis Pigmentosa/Leber Congenital Amaurosis Panel, Sequencing and Deletion/Duplication, 53 Genes.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

AIPL1, BEST1, SPATA7, RP1, ABCA4, CEP290, TTC8, USH2A, PRPH2, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
50 %
SAG. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SAG
Specificity
100 %
Genes
50 %
Oguchi disease 1 (sequence analysis of SAG gene).

By CGC Genetics in Portugal.

SAG
Specificity
100 %
Genes
50 %
Retinitis pigmentosa (NGS panel for 72 genes).

By CGC Genetics in Portugal.

ZNF513, BEST1, SPATA7, RP1, ABCA4, ARL6, CLRN1, TTC8, USH2A, PRPH2, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, CRX , (...)

View the complete list with 52 more genes
Specificity
2 %
Genes
50 %
Retinitis pigmentosa, AR and X-linked (NGS panel for 53 genes).

By CGC Genetics in Portugal.

ZNF513, BEST1, SPATA7, RP1, ABCA4, TTC8, USH2A, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, CRB1, IDH3B, C8orf37, MERTK, DHDDS , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
50 %
Night blindness, congenital stationary (NGS panel of 13 genes).

By CGC Genetics in Portugal.

CACNA1F, SAG, RHO, PDE6B, SLC24A1, GRK1, TRPM1, GNAT1, NYX, GRM6, GNB3, LRIT3, GPR179
Specificity
16 %
Genes
100 %
Retinitis pigmentosa 47 (deletions/duplications analysis of SAG gene).

By CGC Genetics in Portugal.

SAG
Specificity
100 %
Genes
50 %
Retinitis pigmentosa 47 (deletions/duplications analysis of SAG gene).

By CGC Genetics in Portugal.

SAG
Specificity
100 %
Genes
50 %
Night blindness, congenital stationary (NGS panel of 13 genes).

By CGC Genetics in Portugal.

CACNA1F, SAG, RHO, PDE6B, SLC24A1, GRK1, TRPM1, GNAT1, NYX, GRM6, GNB3, LRIT3, GPR179
Specificity
16 %
Genes
100 %
Autosomal Recessive Retinitis Pigmentosa Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ABHD12, ZNF513, AIPL1, BEST1, NEUROD1, SPATA7, RP1, INPP5E, ABCA4, MFRP, ARL6, CEP290, CLRN1, TTC8, USH2A, TULP1, SAG, RPGRIP1, RPE65, RLBP1 , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
50 %
Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ABHD12, ZNF513, AIPL1, BEST1, NEUROD1, SPATA7, PRKCG, CHM, RP1, INPP5E, ABCA4, CACNA1F, MFRP, ARL6, CEP290, CLRN1, TTC8, USH2A, PRPH2, TULP1 , (...)

View the complete list with 60 more genes
Specificity
2 %
Genes
50 %
Congenital Stationary Night Blindness Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CHM, CACNA1F, SAG, RPE65, RHO, PDE6B, SLC24A1, TRPM1, CACNA2D4, GNAT1, CABP4, NYX, GRM6, RDH5, LRIT3, GPR179
Specificity
7 %
Genes
50 %
Oguchi Disease and Retinitis Pigmentosa (RP47) via SAG Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SAG
Specificity
100 %
Genes
50 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, NEUROD1, SPATA7, MMACHC, FBLN5, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, AMACR , (...)

View the complete list with 285 more genes
Specificity
1 %
Genes
100 %
SAG-Related Retinitis Pigmentosa.

By Bioscientia GmbH Center for Human Genetics in Germany.

SAG
Specificity
100 %
Genes
50 %
Oguchi disease.

By Centogene AG - the Rare Disease Company in Germany.

SAG
Specificity
100 %
Genes
50 %
Retinitis pigmentosa type 47, autosomal recessive.

By Centogene AG - the Rare Disease Company in Germany.

SAG
Specificity
100 %
Genes
50 %
Congenital Stationary Night Blindness Panel.

By CeGaT GmbH in Germany.

CACNA1F, SAG, RHO, PDE6B, SLC24A1, GRK1, TRPM1, CACNA2D4, GNAT1, CABP4, NYX, GRM6, LRIT3, GPR179, RBP4
Specificity
14 %
Genes
100 %
Retinitis pigmentosa, autosomal recessive and X-linked Panel.

By CeGaT GmbH in Germany.

ZNF513, BEST1, SPATA7, RP1, ABCA4, CLRN1, TTC8, USH2A, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, CRB1, IDH3B, C8orf37, MERTK , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
50 %
Autosomal Recessive Retinitis Pigmentosa.

By Asper Biogene Asper Biogene LLC in Estonia.

ZNF513, AIPL1, BEST1, RP1, ABCA4, CNGB3, ARL6, CLRN1, TTC8, USH2A, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, CRX , (...)

View the complete list with 36 more genes
Specificity
4 %
Genes
100 %
Congenital Stationary Night Blindness.

By Asper Biogene Asper Biogene LLC in Estonia.

CACNA1F, SAG, RHO, PDE6B, GRK1, TRPM1, GNAT1, CABP4, NYX, GRM6
Specificity
20 %
Genes
100 %
Eye diseases comprehensive panel.

By Asper Biogene Asper Biogene LLC in Estonia.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, OPN1MW, SPATA7, TYRP1, LRP5, COL2A1, VSX1, SLC45A2, PAX6, ZEB1, CHM, TGFBI, PITX3, TYR , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
100 %
Retinal Dystrophy Panel.

By Molecular Vision Laboratory in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, AMACR, OPA1 , (...)

View the complete list with 267 more genes
Specificity
1 %
Genes
100 %
Congenital Stationary Night Blindness panel.

By Molecular Vision Laboratory in United States.

CACNA1F, SAG, RHO, PDE6B, SLC24A1, GRK1, TRPM1, GNAT1, CABP4, NYX, GRM6, RDH5, LRIT3, GPR179
Specificity
15 %
Genes
100 %
MVL Vision Panel.

By Molecular Vision Laboratory in United States.

ZNF513, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4 , (...)

View the complete list with 248 more genes
Specificity
1 %
Genes
100 %
RETINITIS PIGMENTOSA A.R..

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

ZNF513, BEST1, SPATA7, RP1, ABCA4, TTC8, USH2A, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, CRB1, IDH3B, C8orf37, MERTK, DHDDS , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
50 %
RETINITIS PIGMENTOSA.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

ZNF513, BEST1, SPATA7, RP1, ABCA4, TTC8, USH2A, PRPH2, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, CRX, CRB1, IDH3B , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
50 %
Eye Disorders: Comprehensive Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, TYRP1, LRP5, COL2A1, OCA2, SLC45A2, WT1, PAX6, CHM, PITX3, TYR, RP1, GPR143 , (...)

View the complete list with 190 more genes
Specificity
1 %
Genes
50 %
Congenital Stationary Night Blindness: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

CACNA1F, SAG, RHO, PDE6B, SLC24A1, TRPM1, CACNA2D4, GNAT1, CABP4, NYX, GRM6, RDH5, LRIT3, GPR179, RBP4
Specificity
7 %
Genes
50 %
Retinitis Pigmentosa: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ZNF513, AIPL1, BEST1, SPATA7, RP1, ABCA4, CLRN1, TTC8, USH2A, PRPH2, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1 , (...)

View the complete list with 44 more genes
Specificity
2 %
Genes
50 %
Retina/Photoreceptor Dystrophy: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ZNF513, AIPL1, BEST1, SPATA7, LRP5, COL2A1, PAX6, CHM, RP1, OPA1, ELOVL4, ABCA4, CACNA1F, NDP, OTX2, CNGB3, KCNJ13, CEP290, CLRN1, TTC8 , (...)

View the complete list with 100 more genes
Specificity
1 %
Genes
50 %
Congenital Stationary Night Blindness: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

CACNA1F, SAG, RHO, PDE6B, SLC24A1, TRPM1, CACNA2D4, GNAT1, CABP4, NYX, GRM6, RDH5, LRIT3, GPR179, RBP4
Specificity
7 %
Genes
50 %
Eye Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, TYRP1, LRP5, COL2A1, OCA2, SLC45A2, WT1, PAX6, CHM, PITX3, TYR, PDZD7, RP1 , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
50 %
Eye Disorders NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ZNF513, AIPL1, USH1C, BEST1, INVS, SPATA7, COL2A1, PAX6, CHM, RB1, RP1, OPTN, OPA1, WFS1, CC2D2A, FOXC1, ELOVL4, PITX2, ABCA4, JAG1 , (...)

View the complete list with 118 more genes
Specificity
1 %
Genes
50 %
Retinitis Pigmentosa NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ZNF513, AIPL1, USH1C, BEST1, INVS, SPATA7, RP1, WFS1, ABCA4, CACNA1F, ARL6, NPHP3, NPHP1, MKKS, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4 , (...)

View the complete list with 68 more genes
Specificity
2 %
Genes
50 %
SAG.

By Fulgent Genetics Fulgent Genetics in United States.

SAG
Specificity
100 %
Genes
50 %
Retinal Dystrophy Panel.

By Blueprint Genetics in Finland.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, MMACHC, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4 , (...)

View the complete list with 240 more genes
Specificity
1 %
Genes
50 %
Retinitis Pigmentosa Panel.

By Blueprint Genetics in Finland.

ABHD12, ZNF513, AIPL1, USH1C, BEST1, SPATA7, PRKCG, CHM, RP1, INPP5E, ABCA4, MFRP, ARL6, CEP290, CLRN1, TTC8, USH2A, PRPH2, TULP1, SAG , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
50 %
Congenital Stationary Night Blindness Panel.

By Blueprint Genetics in Finland.

CACNA1F, SAG, RPE65, RLBP1, RHO, PDE6B, GRK1, TRPM1, CACNA2D4, GNAT1, CABP4, NYX, GRM6, CYP4V2, RDH5, LRIT3, GPR179
Specificity
12 %
Genes
100 %
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4.

By Bioarray in Spain.

SAG
Specificity
100 %
Genes
50 %
OGUCHI DISEASE.

By Laboratorio de Genetica Clinica SL in Spain.

SAG, GRK1
Specificity
100 %
Genes
100 %
NIGHT BLINDNESS, CONGENITAL STATIONARY (AUTOSOMAL RECESSIVE).

By Laboratorio de Genetica Clinica SL in Spain.

SAG, SLC24A1, GRK1, TRPM1, CABP4, GRM6
Specificity
34 %
Genes
100 %
RETINITIS PIGMENTOSA (AUTOSOMAL RECESSIVE).

By Laboratorio de Genetica Clinica SL in Spain.

ABCA4, USH2A, SAG, RPE65, PDE6B, CRB1, PDE6A, CERKL, EYS
Specificity
12 %
Genes
50 %
Retinitis Pigmentosa, Sequencing SAG Gene.

By Reference Laboratory Genetics in Spain.

SAG
Specificity
100 %
Genes
50 %
Autosomal Recessive and Sporadic Retinitis Pigmentosa, Panel Massive Sequencing (NGS) 41 Genes.

By Reference Laboratory Genetics in Spain.

ZNF513, BEST1, SPATA7, RP1, ABCA4, TTC8, USH2A, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, CRB1, IDH3B, C8orf37, MERTK, DHDDS , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
50 %
Retinitis Pigmentosa (Complet Panel) , Panel Massive Sequencing (NGS) 57 Genes.

By Reference Laboratory Genetics in Spain.

ZNF513, BEST1, SPATA7, RP1, ABCA4, TTC8, USH2A, PRPH2, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, CRX, CRB1, IDH3B , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
50 %
Congenital Stationary Night Blindness , Panel Massive Sequencing (NGS) 13 Genes.

By Reference Laboratory Genetics in Spain.

CACNA1F, SAG, RHO, PDE6B, SLC24A1, GRK1, TRPM1, GNAT1, CABP4, NYX, GRM6, RDH5, GPR179
Specificity
16 %
Genes
100 %
Nonsyndromic Autosomal Recessive retinitis pigmentosa: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

ZNF513, BEST1, NEUROD1, SPATA7, RP1, ABCA4, ARL6, CLRN1, TTC8, USH2A, TULP1, SAG, RPE65, RLBP1, RHO, PROM1, PDE6B, CRB1, IDH3B, C8orf37 , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
50 %
GRK1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

GRK1
Specificity
100 %
Genes
50 %
Oguchi disease 2 (sequence analysis of GRK1 gene).

By CGC Genetics in Portugal.

GRK1
Specificity
100 %
Genes
50 %
Oguchi disease.

By Centogene AG - the Rare Disease Company in Germany.

GRK1
Specificity
100 %
Genes
50 %
GRK1 single gene sequencing.

By Molecular Vision Laboratory in United States.

GRK1
Specificity
100 %
Genes
50 %
GRK1.

By Fulgent Genetics Fulgent Genetics in United States.

GRK1
Specificity
100 %
Genes
50 %
Oguchi disease-1.

By Bioarray in Spain.

GRK1
Specificity
100 %
Genes
50 %
Retinitis Pigmentosa, Sequencing GRK1 Gene.

By Reference Laboratory Genetics in Spain.

GRK1
Specificity
100 %
Genes
50 %

Alternate names

Oguchi Disease 1 Is also known as night blindness, congenital stationary, oguchi type 1;csnbo1;congenital stationary night blindness, oguchi type; oguchi syndrome.



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