KEGG   DISEASE: H00805Help
Entry
H00805                      Disease                                

Name
Vitreoretinal degeneration, including:
Stickler syndrome type I (STL1);
Stickler syndrome type II (STL2);
Snowflake vitreoretinal degeneration (SVD);
Wagner syndrome 1 (WGN1);
Knobloch syndrome (KNO);
Enhanced S-cone syndrome (ESCS);
Autosomal dominant vitreoretinochoroidopathy (ADVIRC)
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 (WGN1) 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 (ADVIRC) are associated with vitreoretinal degeneration.
Category
Nervous system disease; Eye disease
BRITE hierarchy
Pathway
Focal adhesion
ECM-receptor interaction
Cell adhesion molecules (CAMs)
Gene
(STL1) COL2A1 [HSA:1280] [KO:K06236]
(STL2) COL11A1 [HSA:1301] [KO:K06236]
(SVD) KCNJ13 [HSA:3769] [KO:K05006]
(WGN1) CSPG2 [HSA:1462] [KO:K06793]
(KNO) COL18A1 [HSA:80781] [KO:K06823]
(ESCS) NR2E3 [HSA:10002] [KO:K08546]
(ADVIRC) 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
Reference
  Authors
Edwards AO
  Title
Clinical features of the congenital vitreoretinopathies.
  Journal
Eye (Lond) 22:1233-42 (2008)
Reference
  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)
Reference
  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)
Reference
  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)
Reference
  Authors
Sharon D, Sandberg MA, Caruso RC, Berson EL, Dryja TP
  Title
Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration.
  Journal
Arch Ophthalmol 121:1316-23 (2003)
Reference
  Authors
Vincent A, McAlister C, Vandenhoven C, Heon E
  Title
BEST1-related autosomal dominant vitreoretinochoroidopathy: a degenerative disease with a range of developmental ocular anomalies.
  Journal
Eye (Lond) 25:113-8 (2011)

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