scholarly journals Retinal detachment in identical twins with Stickler syndrome type 1.

1996 ◽  
Vol 80 (11) ◽  
pp. 976-981 ◽  
Author(s):  
Y Watanabe ◽  
M Ueda ◽  
E Adachi-Usami
Keyword(s):  
Retinal Detachment ◽  
Identical Twins ◽  
Syndrome Type ◽  
Stickler Syndrome

scholarly journals Stickler Syndrome Type 1 with Short Stature and Atypical Ocular Manifestations

2016 ◽  
Vol 2016 ◽  
pp. 1-3
Author(s):  
Manisha Goyal ◽  
Seema Kapoor ◽  
Shiro Ikegawa ◽  
Gen Nishimura
Keyword(s):  
Retinal Detachment ◽  
Short Stature ◽  
High Myopia ◽  
Type I ◽  
Syndrome Type ◽  
Stickler Syndrome ◽  
Ocular Manifestations ◽  
Vitreoretinal Degeneration ◽  
Collagen Tissue

Stickler syndrome or hereditary progressive arthroophthalmopathy is a heterogeneous group of collagen tissue disorders, characterized by orofacial features, ophthalmological features (high myopia, vitreoretinal degeneration, retinal detachment, and presenile cataracts), hearing impairment, mild spondyloepiphyseal dysplasia, and/or early onset arthritis. Stickler syndrome type I (ocular form) is caused by mutation in the COL2A1 gene. Ptosis and uveitis are relatively rare ophthalmological manifestations of this syndrome. We report an Indian boy having 2710C>T mutation in COL2A1 gene demonstrating short stature, ptosis, and uveitis with Stickler syndrome.

Stickler Syndrome Type 1 Accompanied by Membranous Vitreous Anomaly in Two Japanese Sisters

2013 ◽  
Vol 29 (1) ◽  
pp. 45-47 ◽  
Author(s):  
Shinsuke Suemori ◽  
Akira Sawada ◽  
Ikumi Shiraki ◽  
Kiyofumi Mochizuki
Keyword(s):  
Syndrome Type ◽  
Stickler Syndrome

Pleiotropy of a Stickler syndrome genotype

2021 ◽  
pp. 112067212110356
Author(s):  
Ahmad Baiyasi ◽  
Joshua Barbosa ◽  
Anthony Parendo ◽  
Xihui Lin
Keyword(s):  
Alternative Splicing ◽  
Retinitis Pigmentosa ◽  
Syndrome Type ◽  
Stickler Syndrome ◽  
Col2a1 Gene ◽  
A Site

Purpose: To report a case of pleiotropy in the COL2A1 gene typically associated with Stickler Syndrome Type 1. Observations: A patient with a confirmed mutation of the COL2A1 gene presented with an isolated retinitis pigmentosa phenotype. Conclusions: The mutated COL2A1 gene in Stickler Syndrome Type 1 represents a site of pleiotropy, highlighting a change in phenotype across the same genotype potentially due to tissue alternative splicing.

scholarly journals Surgical treatment of vitreoretinal complications in a patient with Stickler syndrome type 1: a case report

2021 ◽  
Vol 6 (0) ◽  
pp. 113-116
Author(s):  
Nicolás Rivera-Valdivia ◽  
Carlos Salgado-Cerrate ◽  
Pablo Cabal-López ◽  
Hiroshi Maeda-Yasunaga ◽  
Laura Pacheco-Palomino ◽  
...  
Keyword(s):  
Case Report ◽  
Surgical Treatment ◽  
Syndrome Type ◽  
Stickler Syndrome

Retinal Detachment and Prophylaxis in Type 1 Stickler Syndrome

Ophthalmology ◽  
2008 ◽  
Vol 115 (1) ◽  
pp. 164-168 ◽  
Author(s):  
Alan Ang ◽  
Arabella V. Poulson ◽  
Sandy F. Goodburn ◽  
Allan J. Richards ◽  
John D. Scott ◽  
...  
Keyword(s):  
Retinal Detachment ◽  
Stickler Syndrome

Challenges in the Diagnostic Conceptualization of CRPS-1 (Formerly Conceptualized as RSD)

2006 ◽  
Vol 11 (2) ◽  
pp. 1-3, 9-12
Author(s):  
Robert J. Barth ◽  
Tom W. Bohr
Keyword(s):  
Clinical Practice ◽  
Complex Regional Pain Syndrome ◽  
Somatoform Disorders ◽  
International Association ◽  
Pain Syndrome ◽  
Somatoform Disorder ◽  
Syndrome Type ◽  
Previous Issue

Abstract From the previous issue, this article continues a discussion of the potentially confusing aspects of the diagnostic formulation for complex regional pain syndrome type 1 (CRPS-1) proposed by the International Association for the Study of Pain (IASP), the relevance of these issues for a proposed future protocol, and recommendations for clinical practice. IASP is working to resolve the contradictions in its approach to CRPS-1 diagnosis, but it continues to include the following criterion: “[c]ontinuing pain, which is disproportionate to any inciting event.” This language only perpetuates existing issues with current definitions, specifically the overlap between the IASP criteria for CRPS-1 and somatoform disorders, overlap with the guidelines for malingering, and self-contradiction with respect to the suggestion of injury-relatedness. The authors propose to overcome the last of these by revising the criterion: “[c]omplaints of pain in the absence of any identifiable injury that could credibly account for the complaints.” Similarly, the overlap with somatoform disorders could be reworded: “The possibility of a somatoform disorder has been thoroughly assessed, with the results of that assessment failing to produce any consistencies with a somatoform scenario.” The overlap with malingering could be addressed in this manner: “The possibility of malingering has been thoroughly assessed, with the results of that assessment failing to produce any consistencies with a malingering scenario.” The article concludes with six recommendations, and a sidebar discusses rating impairment for CRPS-1 (with explicit instructions not to use the pain chapter for this purpose).

Management of Complex Regional Pain Syndrome Type 1 with Barbiturate Coma Therapy -A case report-

2006 ◽  
Vol 19 (2) ◽  
pp. 213
Author(s):  
Tae Kyu Park ◽  
Kyung Ream Han ◽  
Dong Wook Shin ◽  
Young Joo Lee ◽  
Chan Kim
Keyword(s):  
Case Report ◽  
Complex Regional Pain Syndrome ◽  
Pain Syndrome ◽  
Syndrome Type ◽  
Barbiturate Coma
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