KEGG   DISEASE: H00787Help
Entry
H00787                      Disease                                

Name
Congenital stationary night blindness (CSNB), including:
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; Eye disease
BRITE hierarchy
Pathway
Phototransduction
MAPK signaling pathway
Calcium signaling pathway
Neuroactive ligand-receptor interaction
Glutamatergic synapse
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]
(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]
(CSNBO2) GRK1 [HSA:6011] [KO:K00909]
Marker
Electroretinogram (ERG)
Other DBs
Reference
  Authors
Boycott KM, Bech-Hansen NT, Sauve Y, MacDonald IM
  Title
X-Linked Congenital Stationary Night Blindness
  Journal
(1993)
Reference
  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)
Reference
  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 (2011)
Reference
  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)
Reference
  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)

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