Literature DB >> 114056

Vitreoretinal degeneration as a sign of generalized connective tissue diseases.

I H Maumenee.   

Abstract

Dominant vitreoretinal degeneration was first described by Wagner as a benign ocular condition. This term has since become widely associated with a familial retinal degenerative process accompanied by retinal detachments, even though nobody in the family described by Wagner suffered from a retinal detachment. Vitreoretinal degeneration, often progressing to detachments, occurs also in several distinct bone dysplasias. I have provided a classification of syndromes with vitreoretinal degeneration and its signficance as a sign of connective tissue diseases (probably involving type II collagen). In this sense, it is similar to ectopia lentis as a sign of various connective tissue diseases.

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Year:  1979        PMID: 114056     DOI: 10.1016/0002-9394(79)90645-7

Source DB:  PubMed          Journal:  Am J Ophthalmol        ISSN: 0002-9394            Impact factor:   5.258


  25 in total

1.  Linkage study in a large pedigree with Stickler syndrome: exclusion of COL2A1 as the mutant gene.

Authors:  J Bonaventure; C Philippe; G Plessis; J Vigneron; C Lasselin; P Maroteaux; S Gilgenkrantz
Journal:  Hum Genet       Date:  1992 Sep-Oct       Impact factor: 4.132

2.  Autosomal dominant rhegmatogenous retinal detachment--clinical appearance and surgical outcome.

Authors:  Thomas Theelen; Sioe Lie Go; Maurits A D Tilanus; B Jeroen Klevering; August F Deutman; Frans P M Cremers; Carel B Hoyng
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2004-04-02       Impact factor: 3.117

3.  Perifoveal vitreous detachment and its macular complications.

Authors:  Mark W Johnson
Journal:  Trans Am Ophthalmol Soc       Date:  2005

Review 4.  Extracellular matrix molecules: potential targets in pharmacotherapy.

Authors:  Hannu Järveläinen; Annele Sainio; Markku Koulu; Thomas N Wight; Risto Penttinen
Journal:  Pharmacol Rev       Date:  2009-06       Impact factor: 25.468

5.  Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome.

Authors:  A E Fryer; M Upadhyaya; M Littler; P Bacon; D Watkins; P Tsipouras; P S Harper
Journal:  J Med Genet       Date:  1990-02       Impact factor: 6.318

6.  Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia.

Authors:  Gopalrao V N Velagaleti; Gabriel A Bien-Willner; Jill K Northup; Lillian H Lockhart; Judy C Hawkins; Syed M Jalal; Marjorie Withers; James R Lupski; Pawel Stankiewicz
Journal:  Am J Hum Genet       Date:  2005-02-22       Impact factor: 11.025

Review 7.  Clinical and Molecular genetics of Stickler syndrome.

Authors:  M P Snead; J R Yates
Journal:  J Med Genet       Date:  1999-05       Impact factor: 6.318

8.  Ocular-chondrodysplasia in labrador retriever dogs: a morphometric and electron microscopical analysis.

Authors:  C E Farnum; K Jones; R Riis; N J Wilsman
Journal:  Calcif Tissue Int       Date:  1992-06       Impact factor: 4.333

9.  Hereditary vitreoretinal dystrophy associated with peripheral neuropathy.

Authors:  A Ettl; S Felber; C Kunze; C Schmidauer; B Utermann; A Daxer; W Göttinger
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1994-06       Impact factor: 3.117

Review 10.  A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon.

Authors:  N N Ahmad; D M McDonald-McGinn; E H Zackai; R G Knowlton; D LaRossa; J DiMascio; D J Prockop
Journal:  Am J Hum Genet       Date:  1993-01       Impact factor: 11.025

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