KEGG   DISEASE: Vitreoretinal degeneration
Entry
H00805                      Disease                                
Name
Vitreoretinal degeneration
  Subgroup
Stickler syndrome (STL) [DS:H02072]
Snowflake vitreoretinal degeneration (SVD) [DS:H02077]
Wagner syndrome (WGVRP) [DS:H02073]
Knobloch syndrome (KNO) [DS:H02074]
Enhanced S-cone syndrome (ESCS) [DS:H02075]
Autosomal dominant vitreoretinochoroidopathy (VRCP) [DS:H02078]
Description
The inherited vitreoretinal degenerations are disorders of the eye characterized by early onset cataract, anomalies of the vitreous manifesting as optically empty vitreous, course fibrils, and membranes, and retinal detachment. These diseases include Stickler syndrome types I (STL1) and II (STL2), caused by mutations in COL2A1 and COL11A1 respectively. Snowflake vitreoretinal degeneration (SVD) is associated with a mutation in a KCNJ13, and Wagner syndrome (WGVRP) with mutations in CSPG2. Knobloch syndrome (KNO) may also be caused by mutations in a collagen gene, COL18A1. In addition to Stickler syndrome and other chondrodysplasias, enhanced S-cone syndrome (ESCS) and autosomal dominant vitreoretinochoroidopathy (VRCP) are associated with vitreoretinal degeneration.
Category
Nervous system disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Eye disease
   H00805  Vitreoretinal degeneration
Human diseases in ICD-11 classification [BR:br08403]
 09 Diseases of the visual system
  Disorders of the eyeball posterior segment
   Disorders of the vitreous body
    9B80  Inherited vitreoretinal disorders
     H00805  Vitreoretinal degeneration
Related
pathway
hsa04151  PI3K-Akt signaling pathway
hsa04512  ECM-receptor interaction
hsa04514  Cell adhesion molecules
hsa04510  Focal adhesion
Gene
(STL1) COL2A1 [HSA:1280] [KO:K19719]
(STL2) COL11A1 [HSA:1301] [KO:K19721]
(SVD) KCNJ13 [HSA:3769] [KO:K05006]
(WGVRP) VCAN [HSA:1462] [KO:K06793]
(KNO1) COL18A1 [HSA:80781] [KO:K06823]
(ESCS) NR2E3 [HSA:10002] [KO:K08546]
(VRCP) BEST1 [HSA:7439] [KO:K13878]
Comment
STL1 and STL2 are also included in Type II and XI collagenopathies, respectively. [DS:H00520] [DS:H00519]
Other DBs
ICD-11: 9B80
ICD-10: H35.5
OMIM: 108300 604841 193230 143200 267750 268100 193220
Reference
  Authors
Edwards AO
  Title
Clinical features of the congenital vitreoretinopathies.
  Journal
Eye (Lond) 22:1233-42 (2008)
DOI:10.1038/eye.2008.38
Reference
PMID:1677770 (COL2A1)
  Authors
Ahmad NN, Ala-Kokko L, Knowlton RG, Jimenez SA, Weaver EJ, Maguire JI, Tasman W, Prockop DJ
  Title
Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy).
  Journal
Proc Natl Acad Sci U S A 88:6624-7 (1991)
DOI:10.1073/pnas.88.15.6624
Reference
PMID:8872475 (COL11A1)
  Authors
Richards AJ, Yates JR, Williams R, Payne SJ, Pope FM, Scott JD, Snead MP
  Title
A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen.
  Journal
Hum Mol Genet 5:1339-43 (1996)
DOI:10.1093/hmg/5.9.1339
Reference
PMID:18179896 (KCNJ13)
  Authors
Hejtmancik JF, Jiao X, Li A, Sergeev YV, Ding X, Sharma AK, Chan CC, Medina I, Edwards AO
  Title
Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration.
  Journal
Am J Hum Genet 82:174-80 (2008)
DOI:10.1016/j.ajhg.2007.08.002
Reference
PMID:16043844 (VCAN)
  Authors
Miyamoto T, Inoue H, Sakamoto Y, Kudo E, Naito T, Mikawa T, Mikawa Y, Isashiki Y, Osabe D, Shinohara S, Shiota H, Itakura M
  Title
Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome.
  Journal
Invest Ophthalmol Vis Sci 46:2726-35 (2005)
DOI:10.1167/iovs.05-0057
Reference
PMID:10942434 (COL18A1)
  Authors
Sertie AL, Sossi V, Camargo AA, Zatz M, Brahe C, Passos-Bueno MR
  Title
Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome).
  Journal
Hum Mol Genet 9:2051-8 (2000)
DOI:10.1093/hmg/9.13.2051
Reference
PMID:10655056 (NR2E3)
  Authors
Haider NB, Jacobson SG, Cideciyan AV, Swiderski R, Streb LM, Searby C, Beck G, Hockey R, Hanna DB, Gorman S, Duhl D, Carmi R, Bennett J, Weleber RG, Fishman GA, Wright AF, Stone EM, Sheffield VC
  Title
Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.
  Journal
Nat Genet 24:127-31 (2000)
DOI:10.1038/72777
Reference
PMID:15452077 (BEST1)
  Authors
Yardley J, Leroy BP, Hart-Holden N, Lafaut BA, Loeys B, Messiaen LM, Perveen R, Reddy MA, Bhattacharya SS, Traboulsi E, Baralle D, De Laey JJ, Puech B, Kestelyn P, Moore AT, Manson FD, Black GC
  Title
Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).
  Journal
Invest Ophthalmol Vis Sci 45:3683-9 (2004)
DOI:10.1167/iovs.04-0550
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