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Current Understanding of the Genetic Architecture of Rhegmatogenous Retinal Detachment.
Johnston T, Chandra A, Hewitt AW. Johnston T, et al. Ophthalmic Genet. 2016 Jun;37(2):121-9. doi: 10.3109/13816810.2015.1033557. Epub 2016 Jan 12. Ophthalmic Genet. 2016. PMID: 26757352 Review.
Much work has been undertaken investigating genes important in syndromic forms of RRD (e.g., Stickler, Wagner Syndrome, etc.) and research pertaining to genetic investigations of idiopathic or non-syndromic RRD has also recently been reported. ...
Much work has been undertaken investigating genes important in syndromic forms of RRD (e.g., Stickler, Wagner Syndrome, etc.) …
Clinical features of the congenital vitreoretinopathies.
Edwards AO. Edwards AO. Eye (Lond). 2008 Oct;22(10):1233-42. doi: 10.1038/eye.2008.38. Epub 2008 Feb 29. Eye (Lond). 2008. PMID: 18309337 Review.
These diseases include Stickler syndrome types I (STL1) and II (STL2), usually caused by mutations in COL2A1 and COL11A1 respectively. Wagner syndrome (WGN1) is associated with mutations in versican (CSPG2) and snowflake vitreoretinal degeneration (SVD) with a mutat …
These diseases include Stickler syndrome types I (STL1) and II (STL2), usually caused by mutations in COL2A1 and COL11A1 respectively. Wa
Clinical variability of Stickler syndrome: role of exon 2 of the collagen COL2A1 gene.
Donoso LA, Edwards AO, Frost AT, Ritter R 3rd, Ahmad N, Vrabec T, Rogers J, Meyer D, Parma S. Donoso LA, et al. Surv Ophthalmol. 2003 Mar-Apr;48(2):191-203. doi: 10.1016/s0039-6257(02)00460-5. Surv Ophthalmol. 2003. PMID: 12686304 Review.
This observation has led to difficulty distinguishing this Stickler phenotype from other hereditary vitreoretinal degenerations, such as Wagner syndrome and Snowflake vitreoretinal degeneration. In this regard, review of the literature indicates type II collagen exi …
This observation has led to difficulty distinguishing this Stickler phenotype from other hereditary vitreoretinal degenerations, such as …
[Paediatric retinal detachment and hereditary vitreoretinal disorders].
Meier P. Meier P. Klin Monbl Augenheilkd. 2013 Sep;230(9):914-9. doi: 10.1055/s-0033-1350759. Epub 2013 Aug 28. Klin Monbl Augenheilkd. 2013. PMID: 23986190 Review. German.
One predisposing factor for development of paediatric retinal detachment is suffering from hereditary vitreoretinal degeneration (e.g., Stickler syndrome, Wagner syndrome, Kniest dysplasia, familial exudative vitreoretinopathy, congenital X-linked retinoschisis, Kno …
One predisposing factor for development of paediatric retinal detachment is suffering from hereditary vitreoretinal degeneration (e.g., Stic …