| H00805 | |
| H number | H00805 |
| Name | Vitreoretinal degeneration |
| 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 |
| Network | - |
| 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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| 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 | PMID:18309337 AUTHORS Edwards AO TITLE Clinical features of the congenital vitreoretinopathies. JOURNAL Eye (Lond) 22:1233-42 (2008) DOI:10.1038/eye.2008.38 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 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 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 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 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 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 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 |