KEGG   DISEASE: Congenital stationary night blindness (CSNB)Help
H00787                      Disease                                

Congenital stationary night blindness (CSNB), including:
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; Eye disease
Human diseases [BR:br08402]
 Nervous system diseases
  Other nervous and sensory system diseases
   H00787  Congenital stationary night blindness (CSNB)
Human diseases in ICD-10 classification [BR:br08403]
 7. Diseases of the eye and adnexa (H00-H59)
  H53-H54  Visual disturbances and blindness
   H53  Visual disturbances
    H00787  Congenital stationary night blindness (CSNB)
BRITE hierarchy
MAPK signaling pathway
Calcium signaling pathway
Neuroactive ligand-receptor interaction
Glutamatergic 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]
(CSNB1F) LRIT3 [HSA:345193]
(CSNB2A) CACNA1F [HSA:778] [KO:K04853]
(CSNB2B) CABP4 [HSA:57010]
(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]
Electroretinogram (ERG)
Other DBs
Boycott KM, Bech-Hansen NT, Sauve Y, MacDonald IM
X-Linked Congenital Stationary Night Blindness
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 (2011)
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)
PMID:22325361 (gene)
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)
PMID:23246293 (gene)
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)

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