KEGG   DISEASE: Vitreoretinal degenerationHelp
H00805                      Disease                                

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)
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.
Nervous system disease; Eye disease
Human diseases [BR:br08402]
 Nervous system diseases
  Other nervous and sensory system diseases
   H00805  Vitreoretinal degeneration
Human diseases in ICD-10 classification [BR:br08403]
 7. Diseases of the eye and adnexa (H00-H59)
  H30-H36  Disorders of choroid and retina
   H35  Other retinal disorders
    H00805  Vitreoretinal degeneration
BRITE hierarchy
Focal adhesion
ECM-receptor interaction
Cell adhesion molecules (CAMs)
(STL1) COL2A1 [HSA:1280] [KO:K19719]
(STL2) COL11A1 [HSA:1301] [KO:K19721]
(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]
STL1 and  STL2 are also included in Type II and XI collagenopathies, respectively. [DS:H00520] [DS:H00519]
Other DBs
Edwards AO
Clinical features of the congenital vitreoretinopathies.
Eye (Lond) 22:1233-42 (2008)
Hejtmancik JF, Jiao X, Li A, Sergeev YV, Ding X, Sharma AK, Chan CC, Medina I, Edwards AO
Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration.
Am J Hum Genet 82:174-80 (2008)
Miyamoto T, Inoue H, Sakamoto Y, Kudo E, Naito T, Mikawa T, Mikawa Y, Isashiki Y, Osabe D, Shinohara S, Shiota H, Itakura M
Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome.
Invest Ophthalmol Vis Sci 46:2726-35 (2005)
Sertie AL, Sossi V, Camargo AA, Zatz M, Brahe C, Passos-Bueno MR
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).
Hum Mol Genet 9:2051-8 (2000)
Sharon D, Sandberg MA, Caruso RC, Berson EL, Dryja TP
Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration.
Arch Ophthalmol 121:1316-23 (2003)
Vincent A, McAlister C, Vandenhoven C, Heon E
BEST1-related autosomal dominant vitreoretinochoroidopathy: a degenerative disease with a range of developmental ocular anomalies.
Eye (Lond) 25:113-8 (2011)

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