KEGG DISEASE: Bietti crystalline corneoretinal dystrophy

KEGG

DISEASE: Bietti crystalline corneoretinal dystrophy

Entry

H02107                      Disease

Name

Bietti crystalline corneoretinal dystrophy

Supergrp

Familial flecked retina syndrome [DS:H00825]

Description

Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessive retinal dystrophy characterized by crystalline deposits in the retina, followed by progressive atrophy of the retinal pigment epithelium (RPE), choriocapillaris, and photoreceptors. BCD usually occurs in the second or third decade of life. CYP4V2 has been identified as the causative gene for BCD.

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 choroid
    9B61  Choroidal dystrophy
     H02107  Bietti crystalline corneoretinal dystrophy

Gene

CYP4V2 [HSA:285440] [KO:K07427]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Ng DS, Lai TY, Ng TK, Pang CP

Title

Genetics of Bietti Crystalline Dystrophy.

Journal

Asia Pac J Ophthalmol (Phila) 5:245-52 (2016)
DOI:10.1097/APO.0000000000000209

Reference

Authors

Ji SX, Yin XL, He XG, Yuan RD, Ye J, Liu SZ, Gan XM, Dong Y

Title

Bietti crystalline dystrophy with bilateral macular holes.

Journal

Retin Cases Brief Rep 3:361-3 (2009)
DOI:10.1097/ICB.0b013e3181780832

Reference

Authors

Li A, Jiao X, Munier FL, Schorderet DF, Yao W, Iwata F, Hayakawa M, Kanai A, Shy Chen M, Alan Lewis R, Heckenlively J, Weleber RG, Traboulsi EI, Zhang Q, Xiao X, Kaiser-Kupfer M, Sergeev YV, Hejtmancik JF

Title

Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.

Journal

Am J Hum Genet 74:817-26 (2004)
DOI:10.1086/383228

Reference

Authors

Lin J, Nishiguchi KM, Nakamura M, Dryja TP, Berson EL, Miyake Y

Title

Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy.

Journal

J Med Genet 42:e38 (2005)
DOI:10.1136/jmg.2004.029066

LinkDB

» Japanese version

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