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Vitreous phenotype: genotype correlation in Stickler syndrome

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References

  1. Billington BM, Leaver PK, McLeod D (1985) Management of retinal detachment in the Wagner-Stickler syndrome. Trans Ophthalmol Soc U K 104:875–879

    PubMed  Google Scholar 

  2. Bishop PN (2000) Structural macromolecules and supramolecular organisation of the vitreous gel. Prog Ret Eye Res 19:323–344

    Article  CAS  Google Scholar 

  3. Black GCM, Perveen R, Wisziewski W, Dodd CL, Donnai D, McLeod D (1999) A novel hereditary developmental vitreoretinopathy with multiple ocular abnormalities localizing to a 5-cM region of chromosome 5q13-q14. Ophthalmology 106:2074–2081

    Article  PubMed  CAS  Google Scholar 

  4. Brown DM, Graemiger RA, Hergersberg M, Schinzel A, Messmer EP, Niemeyer G, Schneeberger SA, Streb LM, Taylor CM, Kimura AE, Weingiest TA, Sheffield VC, Stone EM (1995) Genetic linkage of Wagner disease and erosive vitreoretinopathy to chromosome 5q 13-14. Arch Ophthalmol 113:671–675

    Article  PubMed  CAS  Google Scholar 

  5. Hirose T, Lee KY, Schepens CL (1971) Wagner’s hereditary vitreoretinal degeneration and retinal detachment. Arch Ophthalmol 89:176–185

    Article  Google Scholar 

  6. Hruby K (1960) Clinical observations of vitreous changes. In: Schepens CL (ed) Importance of the vitreous body in retina surgery with special emphasis on reoperations. Mosby, St Louis, pp 94–111

    Google Scholar 

  7. Parentin F, Sangalli A, Mottes M, Perissutti P (2001) Stickler’s syndrome and vitreoretinal degeneration: correlation between locus mutation and vitreous phenotype. Apropos of a case. Graefe’s Arch Clin Exp Ophthalmol 239:316–319

    Article  CAS  Google Scholar 

  8. Richards AJ, Yates JRW, Williams R, Payne SJ, Pope FM, Scott JD and Snead MP (1996) A family with Stickler syndrome type 2 has a mutation in the COL 11 A 1 gene resulting in the substitution of glycine 97 by valine in a1 (XI) collagen. Hum Mol Genet 5:1339–1343

    Article  PubMed  CAS  Google Scholar 

  9. Richards AJ, Martin S, Yates JRW, Scott JD, Baguley DM, Pope FM, Snead MP (2000) COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes. Br J Ophthalmol 84:364–371

    Article  PubMed Central  PubMed  CAS  Google Scholar 

  10. Scott JD (1980) Congenital myopia and retinal detachment. Trans Ophthalmol Soc U K 100:69–71

    PubMed  CAS  Google Scholar 

  11. Scott JD (1989) Duke-Elder Lecture: Prevention and perspective in retinal detachment. Eye 3:491–515

    Article  PubMed  Google Scholar 

  12. Snead MP (1996) Hereditary vitreopathy. Eye 10:653–663

    Article  PubMed  Google Scholar 

  13. Snead MP, Yates JRW (1999) Clinical and molecular genetics of Stickler syndrome. J Med Genet 36:353–359

    PubMed Central  PubMed  CAS  Google Scholar 

  14. Snead MP, Payne SJ, Barton D, Yates JRW, Al-Imara L, Pope FM, Scott JD (1994) Stickler syndrome: correlation between vitreoretinal phenotypes and linkage to COL2A1. Eye 8:609–614

    Article  PubMed  Google Scholar 

  15. Snead MP, Yates JRW, Pope FM, Temple IK, Scott JD (1996) Masked confirmation of linkage between type 1 congenital vitreous anomaly and COL2A1 in Stickler syndrome. Graefe’s Arch Clin Exp Ophthalmol 234:720–721

    Article  CAS  Google Scholar 

  16. Zech J-C, Morle L, Vincent P, Alloisio N, Bozon M, Gonnet C, Milazzo S, Grange J-D, Trepsat C, Godet J, Plauchu H (1999) Wagner vitreoretinal degeneration with genetic linkage refinement on chromosome 5q13-q14. Graefe’s Arch Clin Exp Ophthalmol 237:387–393

    Article  CAS  Google Scholar 

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Authors and Affiliations

  1. Academic Department of Ophthalmology, Manchester Royal Eye Hospital, Oxford Road, Manchester, M13 9WH, UK

    David McLeod, Graeme C. M. Black & Paul N. Bishop

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  1. David McLeod
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  2. Graeme C. M. Black
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  3. Paul N. Bishop
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Correspondence to David McLeod.

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McLeod, D., Black, G.C.M. & Bishop, P.N. Vitreous phenotype: genotype correlation in Stickler syndrome. Graefe's Arch Clin Exp Ophthalmol 240, 63–65 (2002). https://doi.org/10.1007/s00417-001-0380-8

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  • DOI: https://doi.org/10.1007/s00417-001-0380-8

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