KEGG   DISEASE: Congenital stationary night blindness
H00787                      Disease                                

Congenital stationary night blindness
CSNB type 1 (CSNB1)
CSNB type 2 (CSNB2)
CSNB autosomal dominant (CSNBAD)
Oguchi disease/ CSNB Oguchi type (CSNBO)
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.
Nervous system disease
Human diseases [BR:br08402]
 Nervous system diseases
  Eye disease
   H00787  Congenital stationary night blindness
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
hsa04744  Phototransduction
hsa04724  Glutamatergic synapse
hsa04727  GABAergic synapse
hsa04062  Chemokine signaling pathway
hsa04725  Cholinergic synapse
hsa04723  Retrograde endocannabinoid signaling
hsa04726  Serotonergic synapse
(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]
(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) GNAT1 [HSA:2779] [KO:K04631]
(CSNBO1) SAG [HSA:6295] [KO:K19627]
(CSNBO2) GRK1 [HSA:6011] [KO:K00909]
Other DBs
ICD-11: 9D45
ICD-10: H53.6
MeSH: C536122 C537743
OMIM: 310500 257270 613216 613830 614565 615058 300071 610427 610445 163500 610444 258100 613411 617024
Boycott KM, Bech-Hansen NT, Sauve Y, MacDonald IM
X-Linked Congenital Stationary Night Blindness
GeneReviews (1993)
van Genderen MM, Bijveld MM, Claassen YB, Florijn RJ, Pearring JN, Meire FM, McCall MA, Riemslag FC, Gregg RG, Bergen AA, Kamermans M
Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.
Am J Hum Genet 85:730-6 (2009)
Chen RW, Greenberg JP, Lazow MA, Ramachandran R, Lima LH, Hwang JC, Schubert C, Braunstein A, Allikmets R, Tsang SH
Autofluorescence imaging and spectral-domain optical coherence tomography in incomplete congenital stationary night blindness and comparison with retinitis pigmentosa.
Am J Ophthalmol 153:143-54.e2 (2012)
Oishi A, Akimoto M, Kawagoe N, Mandai M, Takahashi M, Yoshimura N
Novel mutations in the GRK1 gene in Japanese patients With Oguchi disease.
Am J Ophthalmol 144:475-7 (2007)
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
A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness.
Am J Hum Genet 87:523-31 (2010)
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
Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.
Am J Hum Genet 90:321-30 (2012)
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
Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness.
Am J Hum Genet 92:67-75 (2013)
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
Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness.
Am J Hum Genet 98:1011-1019 (2016)

» Japanese version

DBGET integrated database retrieval system