Literature DB >> 3651362

Stickler's syndrome: a study of 12 families.

A Spallone1.   

Abstract

Stickler's syndrome is a congenital disease of connective tissue with considerable ocular and non-ocular lesions. This study reports 12 pedigrees (10 families and two isolated cases) and evaluates some peculiar ocular aspects not previously reported in the syndrome.

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Mesh:

Year:  1987        PMID: 3651362      PMCID: PMC1041215          DOI: 10.1136/bjo.71.7.504

Source DB:  PubMed          Journal:  Br J Ophthalmol        ISSN: 0007-1161            Impact factor:   4.638


  11 in total

1.  Chamber angle anomalies in systemic connective tissue disorders.

Authors:  H M BURIAN; G K VON NOORDEN; I V PONSETI
Journal:  Arch Ophthalmol       Date:  1960-11

2.  Histologic study of the chamber angel of patients with Marfan's syndrome. A discussion of the cases of Theobald, Reeh and Lehman, and Sadi de Buen and Velazquez.

Authors:  H M BURIAN; L ALLEN
Journal:  Arch Ophthalmol       Date:  1961-03

3.  Familial exudative vitreoretinopathy.

Authors:  V G Criswick; C L Schepens
Journal:  Am J Ophthalmol       Date:  1969-10       Impact factor: 5.258

4.  Hereditary vitreoretinal degeneration, cleft lip and palate, deafness, and skeletal dysplasia.

Authors:  L Regenbogen; V Godel
Journal:  Am J Ophthalmol       Date:  1980-03       Impact factor: 5.258

5.  Ocular and systemic manifestations of Stickler's syndrome: a preliminary report.

Authors:  T A Weingeist; V Hermsen; J W Hanson; R M Bumsted; S L Weinstein; W H Olin
Journal:  Birth Defects Orig Artic Ser       Date:  1982

6.  The Wagner-Stickler syndrome.

Authors:  R M Liberfarb; T Hirose
Journal:  Birth Defects Orig Artic Ser       Date:  1982

Review 7.  The Stickler syndrome (hereditary arthroophthalmopathy).

Authors:  J Herrmann; T D France; J W Spranger; J M Opitz; C Wiffler
Journal:  Birth Defects Orig Artic Ser       Date:  1975

8.  Inherited hyaloideoretinopathy and skeletal dysplasia.

Authors:  W H Knobloch
Journal:  Trans Am Ophthalmol Soc       Date:  1975

9.  Marfan-like syndrome with lens involvement. Hyaloideoretinal degeneration with anterior chamber angle, facial, dental, and skeletal anomalies.

Authors:  E Cotlier; H Reinglass
Journal:  Arch Ophthalmol       Date:  1975-02

10.  Stickler's syndrome.

Authors:  C E Nielsen
Journal:  Acta Ophthalmol (Copenh)       Date:  1981-04
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  7 in total

1.  Spontaneous involution of autologous lenses and phacoanaphylaxis reaction in Stickler syndrome.

Authors:  I Habil; E Cohen; I Karshai; D BenEzra; F Behar-Cohen
Journal:  Br J Ophthalmol       Date:  2005-11       Impact factor: 4.638

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.  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

4.  Case Series of Stickler Syndrome Presenting With Acute Angle Closure.

Authors:  Alexander Walters; Nathan Lambert; Seth Bricel; Thomas Hwang; Eliesa Ing; Shandiz Tehrani
Journal:  J Glaucoma       Date:  2020-10       Impact factor: 2.290

5.  Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination.

Authors:  Arif O Khan; Lama AlAbdi; Nisha Patel; Rana Helaby; Mais Hashem; Firdous Abdulwahab; Fahad B AlBadr; Fowzan S Alkuraya
Journal:  Mol Genet Genomic Med       Date:  2021-05-05       Impact factor: 2.183

6.  Stickler syndrome.

Authors:  Pukhraj Rishi; Abhilasha Maheshwari; Ekta Rishi
Journal:  Indian J Ophthalmol       Date:  2015-07       Impact factor: 1.848

Review 7.  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

  7 in total

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