KEGG DISEASE: Enhanced S-cone syndrome

KEGG

DISEASE: Enhanced S-cone syndrome

Entry

H02075                      Disease

Name

Enhanced S-cone 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 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

Gene

NR2E3 [HSA:10002] [KO:K08546]

Other DBs

ICD-11:

MeSH:

OMIM:

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

LinkDB

» Japanese version

DBGET integrated database retrieval system