KEGG   DISEASE: Congenital stationary night blindness
Entry
H00787                      Disease                                
Name
Congenital stationary night blindness
  Subgroup
CSNB type 1 (CSNB1)
CSNB type 2 (CSNB2)
CSNB autosomal dominant (CSNBAD)
Oguchi disease/ CSNB Oguchi type (CSNBO)
Description
Congenital stationary night blindness (CSNB) is a group of nonprogressive retinal disorders characterized by impaired night vision. CSNB is currently associated with X-linked genes (NYX, CACNA1F), autosomal recessive genes (CABP4, GRK1, GRM6, SAG, TRPM1), and autosomal dominant genes (GNAT1, PDE6B, RHO). Two types of CSNB can be distinguished by use of the standard flash electroretinogram (ERG). CSNB type 1 (CSNB1) is characterized by the complete absence of rod pathway function, whereas CSNB type 2 (CSNB2) is caused by impaired rod and cone pathway function. Oguchi disease is a form of CSNB. Patients with the Oguchi disease have a unique yellowish-gold fundus that regains its normal color after prolonged dark adaptation. That is called the Mizuo-Nakamura phenomenon.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 09 Diseases of the visual system
  Impairment of visual functions
   9D45  Impairment of light sensitivity
    H00787  Congenital stationary night blindness
Pathway-based classification of diseases [BR:br08402]
 Signal transduction
  nt06528  Calcium signaling
   H00787  Congenital stationary night blindness
Pathway
hsa04020  Calcium signaling pathway
Network
nt06528 Calcium signaling
Gene
(CSNB1A) NYX [HSA:60506] [KO:K08129]
(CSNB1B) GRM6 [HSA:2916] [KO:K04608]
(CSNB1C) TRPM1 [HSA:4308] [KO:K04976]
(CSNB1D) SLC24A1 [HSA:9187] [KO:K13749]
(CSNB1E) GPR179 [HSA:440435] [KO:K22961]
(CSNB1F) LRIT3 [HSA:345193] [KO:K24491]
(CSNB1H) GNB3 [HSA:2784] [KO:K07825]
(CSNB1I) GUCY2D [HSA:3000] [KO:K12321]
(CSNB2A) CACNA1F [HSA:778] [KO:K04853]
(CSNB2B) CABP4 [HSA:57010] [KO:K23531]
(CSNBAD1) RHO [HSA:6010] [KO:K04250]
(CSNBAD2) PDE6B [HSA:5158] [KO:K13756]
(CSNBAD3 CSNB1G) GNAT1 [HSA:2779] [KO:K04631]
(CSNBO1) SAG [HSA:6295] [KO:K19627]
(CSNBO2) GRK1 [HSA:6011] [KO:K00909]
Other DBs
ICD-11: 9D45
MeSH: C536122 C537743
OMIM: 310500 257270 613216 613830 614565 615058 616389 617024 618555 300071 610427 610445 163500 610444 258100 613411
Reference
PMID:20301423 (CSNB1A/B, CSNB2A/B, CSNBAD)
  Authors
Boycott KM, Bech-Hansen NT, Sauve Y, MacDonald IM
  Title
X-Linked Congenital Stationary Night Blindness
  Journal
GeneReviews (1993)
Reference
PMID:19896109 (CSNB1C)
  Authors
van Genderen MM, Bijveld MM, Claassen YB, Florijn RJ, Pearring JN, Meire FM, McCall MA, Riemslag FC, Gregg RG, Bergen AA, Kamermans M
  Title
Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.
  Journal
Am J Hum Genet 85:730-6 (2009)
DOI:10.1016/j.ajhg.2009.10.012
Reference
PMID:20850105 (CSNB1D)
  Authors
Riazuddin SA, Shahzadi A, Zeitz C, Ahmed ZM, Ayyagari R, Chavali VR, Ponferrada VG, Audo I, Michiels C, Lancelot ME, Nasir IA, Zafar AU, Khan SN, Husnain T, Jiao X, MacDonald IM, Riazuddin S, Sieving PA, Katsanis N, Hejtmancik JF
  Title
A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness.
  Journal
Am J Hum Genet 87:523-31 (2010)
DOI:10.1016/j.ajhg.2010.08.013
Reference
PMID:22325361 (CSNB1E)
  Authors
Audo I, Bujakowska K, Orhan E, Poloschek CM, Defoort-Dhellemmes S, Drumare I, Kohl S, Luu TD, Lecompte O, Zrenner E, Lancelot ME, Antonio A, Germain A, Michiels C, Audier C, Letexier M, Saraiva JP, Leroy BP, Munier FL, Mohand-Said S, Lorenz B, Friedburg C, Preising M, Kellner U, Renner AB, Moskova-Doumanova V, Berger W, Wissinger B, Hamel CP, Schorderet DF, De Baere E, Sharon D, Banin E, Jacobson SG, Bonneau D, Zanlonghi X, Le Meur G, Casteels I, Koenekoop R, Long VW, Meire F, Prescott K, de Ravel T, Simmons I, Nguyen H, Dollfus H, Poch O, Leveillard T, Nguyen-Ba-Charvet K, Sahel JA, Bhattacharya SS, Zeitz C
  Title
Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.
  Journal
Am J Hum Genet 90:321-30 (2012)
DOI:10.1016/j.ajhg.2011.12.007
Reference
PMID:23246293 (CSNB1F)
  Authors
Zeitz C, Jacobson SG, Hamel CP, Bujakowska K, Neuille M, Orhan E, Zanlonghi X, Lancelot ME, Michiels C, Schwartz SB, Bocquet B, Antonio A, Audier C, Letexier M, Saraiva JP, Luu TD, Sennlaub F, Nguyen H, Poch O, Dollfus H, Lecompte O, Kohl S, Sahel JA, Bhattacharya SS, Audo I
  Title
Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness.
  Journal
Am J Hum Genet 92:67-75 (2013)
DOI:10.1016/j.ajhg.2012.10.023
Reference
PMID:27063057 (CSNB1H)
  Authors
Vincent A, Audo I, Tavares E, Maynes JT, Tumber A, Wright T, Li S, Michiels C, Condroyer C, MacDonald H, Verdet R, Sahel JA, Hamel CP, Zeitz C, Heon E
  Title
Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness.
  Journal
Am J Hum Genet 98:1011-1019 (2016)
DOI:10.1016/j.ajhg.2016.03.021
Reference
PMID:29559409 (CSNB1I)
  Authors
Stunkel ML, Brodie SE, Cideciyan AV, Pfeifer WL, Kennedy EL, Stone EM, Jacobson SG, Drack AV
  Title
Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D.
  Journal
Am J Ophthalmol 190:58-68 (2018)
DOI:10.1016/j.ajo.2018.03.021
Reference
PMID:21920492 (CSNB2A, CSNB2B)
  Authors
Chen RW, Greenberg JP, Lazow MA, Ramachandran R, Lima LH, Hwang JC, Schubert C, Braunstein A, Allikmets R, Tsang SH
  Title
Autofluorescence imaging and spectral-domain optical coherence tomography in incomplete congenital stationary night blindness and comparison with retinitis pigmentosa.
  Journal
Am J Ophthalmol 153:143-54.e2 (2012)
DOI:10.1016/j.ajo.2011.06.018
Reference
PMID:7670478 (CSNBO1)
  Authors
Fuchs S, Nakazawa M, Maw M, Tamai M, Oguchi Y, Gal A
  Title
A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese.
  Journal
Nat Genet 10:360-2 (1995)
DOI:10.1038/ng0795-360
Reference
PMID:17765441 (CSNBO2)
  Authors
Oishi A, Akimoto M, Kawagoe N, Mandai M, Takahashi M, Yoshimura N
  Title
Novel mutations in the GRK1 gene in Japanese patients With Oguchi disease.
  Journal
Am J Ophthalmol 144:475-7 (2007)
DOI:10.1016/j.ajo.2007.03.025
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