Literature DB >> 4014370

The ocular findings in Kniest dysplasia.

I H Maumenee, E I Traboulsi.   

Abstract

We studied seven patients who had Kniest dysplasia. All of the patients had congenital severe myopia and vitreoretinal degeneration. Four patients developed rhegmatogenous retinal detachments. Early surgery on one patient resulted in successful reattachment and 20/50 vision at a three-year follow-up visit. Other ocular findings included cataracts in two patients, dislocated lenses in one patient, and blepharoptosis in one patient.

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Year:  1985        PMID: 4014370     DOI: 10.1016/s0002-9394(14)74998-0

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


  8 in total

1.  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

2.  COL9A2 and COL9A3 mutations in canine autosomal recessive oculoskeletal dysplasia.

Authors:  Orly Goldstein; Richard Guyon; Anna Kukekova; Tatyana N Kuznetsova; Susan E Pearce-Kelling; Jennifer Johnson; Gustavo D Aguirre; Gregory M Acland
Journal:  Mamm Genome       Date:  2010-08-05       Impact factor: 2.957

Review 3.  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

4.  Megalocornea. Clinical and genetic aspects.

Authors:  F M Meire
Journal:  Doc Ophthalmol       Date:  1994       Impact factor: 2.379

5.  Ophthalmic and molecular genetic findings in Kniest dysplasia.

Authors:  P I Sergouniotis; G S Fincham; A M McNinch; C Spickett; A V Poulson; A J Richards; M P Snead
Journal:  Eye (Lond)       Date:  2015-01-16       Impact factor: 3.775

6.  Kniest dysplasia is characterized by an apparent abnormal processing of the C-propeptide of type II cartilage collagen resulting in imperfect fibril assembly.

Authors:  A R Poole; I Pidoux; A Reiner; L Rosenberg; D Hollister; L Murray; D Rimoin
Journal:  J Clin Invest       Date:  1988-02       Impact factor: 14.808

7.  Significant ocular findings are a feature of heritable bone dysplasias resulting from defects in type II collagen.

Authors:  Sarah P Meredith; Allan J Richards; Philip Bearcroft; Arabella V Pouson; Martin P Snead
Journal:  Br J Ophthalmol       Date:  2007-03-08       Impact factor: 4.638

8.  Clinical, histopathological and genetic characterisation of oculoskeletal dysplasia in the Northern Inuit Dog.

Authors:  Renata Stavinohova; Claudia Hartley; Louise M Burmeister; Sally L Ricketts; Louise Pettitt; Roser Tetas Pont; Rebekkah J Hitti; Ellen Schofield; James A C Oliver; Cathryn S Mellersh
Journal:  PLoS One       Date:  2019-08-15       Impact factor: 3.240

  8 in total

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