Literature DB >> 2378378

Distinctive cataract in the Stickler syndrome.

C M Seery1, R C Pruett, R M Liberfarb, B Z Cohen.   

Abstract

We determined the clinical characteristics of cataract in 133 patients with the Stickler syndrome. Cataracts of various types or aphakia were found in 115 of 231 eyes (49.8%) studied. The most frequent and distinctive lesions, described as wedge and fleck cataracts, accounted for 40 of the 93 cataracts (43.0%) observed. These distinctive opacities may serve as a clinical marker for the Stickler syndrome and facilitate early diagnosis.

Entities:  

Mesh：

Year:  1990        PMID： 2378378     DOI： 10.1016/s0002-9394(14)76982-x

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


  8 in total

Review 1.  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

Review 2.  Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist.

Authors:  M P Snead; A M McNinch; A V Poulson; P Bearcroft; B Silverman; P Gomersall; V Parfect; A J Richards
Journal:  Eye (Lond)       Date:  2011-09-16       Impact factor: 3.775

3.  Ocular changes in heredo-oto-ophthalmo-encephalopathy.

Authors:  T Bek
Journal:  Br J Ophthalmol       Date:  2000-11       Impact factor: 4.638

4.  Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix.

Authors:  A J Richards; D M Baguley; J R Yates; C Lane; M Nicol; P S Harper; J D Scott; M P Snead
Journal:  Am J Hum Genet       Date:  2000-09-25       Impact factor: 11.025

5.  Abnormal expression of collagen IV in lens activates unfolded protein response resulting in cataract.

Authors:  Zeynep Firtina; Brian P Danysh; Xiaoyang Bai; Douglas B Gould; Takehiro Kobayashi; Melinda K Duncan
Journal:  J Biol Chem       Date:  2009-12-18       Impact factor: 5.157

6.  Pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy and primary open-angle glaucoma co-segregating in a family.

Authors:  D A Mackey; A W Hewitt; J B Ruddle; B Vote; R G Buttery; C Toomes; R Metlapally; Y J Li; K N Tran-Viet; F Malecaze; P Calvas; T Rosenberg; J A Guggenheim; T L Young
Journal:  Mol Vis       Date:  2011-08-10       Impact factor: 2.367

Review 7.  Pediatric cataract: challenges and future directions.

Authors:  Anagha Medsinge; Ken K Nischal
Journal:  Clin Ophthalmol       Date:  2015-01-07

Review 8.  Glaucoma Syndromes: Insights into Glaucoma Genetics and Pathogenesis from Monogenic Syndromic Disorders.

Authors:  Daniel A Balikov; Adam Jacobson; Lev Prasov
Journal:  Genes (Basel)       Date:  2021-09-11       Impact factor: 4.096
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.