Vitreoretinal degeneration
Definition:
References:
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[1]. A J Richards, et al. 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. Hum Mol Genet. 1996 Sep;5(9):1339-43. [Content Brief]
[2]. A L Sertié, et al. 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. 2000 Aug 12;9(13):2051-8. [Content Brief]
[3]. A O Edwards, et al. Clinical features of the congenital vitreoretinopathies. Eye (Lond). 2008 Oct;22(10):1233-42. [Content Brief]
[4]. J Fielding Hejtmancik, et al. Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration. Am J Hum Genet. 2008 Jan;82(1):174-80. [Content Brief]
[5]. Jill Yardley, et al. Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC). Invest Ophthalmol Vis Sci. 2004 Oct;45(10):3683-9. [Content Brief]
[6]. N B Haider, et al. Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. Nat Genet. 2000 Feb;24(2):127-31. [Content Brief]
[7]. N N Ahmad, et al. Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy). Proc Natl Acad Sci U S A. 1991 Aug 1;88(15):6624-7. [Content Brief]
[8]. Tatsuro Miyamoto, et al. Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome. Invest Ophthalmol Vis Sci. 2005 Aug;46(8):2726-35. [Content Brief]
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