KEGG   DISEASE: Enhanced S-cone syndromeHelp
Entry
H02075                      Disease                                

Name
Enhanced S-cone syndrome;
Goldmann-Favre syndrome
  Supergrp
Vitreoretinal degeneration [DS:H00805]
Description
Enhanced S-cone syndrome (ESCS) is a rare autosomal recessive retinal dystrophy that results in an increased function of the short wavelength-sensitive (S) cones. It is characterized by night blindness, cystoid maculopathy and degenerative changes of the vascular arcades. Mutations in the NR2E3 gene, which encodes a photoreceptor cell-specific nuclear receptor, cause this disease.
Category
Nervous system disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Eye disease
   H02075  Enhanced S-cone syndrome
Human diseases in ICD-11 classification [BR:br08403]
 09 Diseases of the visual system
  Disorders of the eyeball posterior segment
   Disorders of the retina
    9B70  Inherited retinal dystrophies
     H02075  Enhanced S-cone syndrome
BRITE hierarchy
Gene
NR2E3 [HSA:10002] [KO:K08546]
Other DBs
ICD-11: 9B70
ICD-10: H35.5
MeSH: C564835
OMIM: 268100
Reference
  Authors
Bernal S, Solans T, Gamundi MJ, Hernan I, de Jorge L, Carballo M, Navarro R, Tizzano E, Ayuso C, Baiget M
  Title
Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies.
  Journal
Clin Genet 73:360-6 (2008)
DOI:10.1111/j.1399-0004.2008.00963.x
Reference
  Authors
Nakamura Y, Hayashi T, Kozaki K, Kubo A, Omoto S, Watanabe A, Toda K, Takeuchi T, Gekka T, Kitahara K
  Title
Enhanced S-cone syndrome in a Japanese family with a nonsense NR2E3 mutation (Q350X).
  Journal
Acta Ophthalmol Scand 82:616-22 (2004)
DOI:10.1111/j.1600-0420.2004.00328.x

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