Stickler Syndrome Genotype (COL2A1 mutation) with Retinitis Pigmentosa Phenotype

2020 ◽  
Vol 4 (5) ◽  
pp. 522
Author(s):  
Mark P. Breazzano ◽  
Stephen H. Tsang ◽  
Tongalp H. Tezel
Keyword(s):  
Retinitis Pigmentosa ◽  
Stickler Syndrome ◽  
Col2a1 Mutation

Bilateral vitreous hemorrhage in a newborn with Stickler syndrome associated with a novel COL2A1 mutation

2011 ◽  
Vol 15 (3) ◽  
pp. 311-313 ◽  
Author(s):  
Christina Gerth-Kahlert ◽  
Salvatore Grisanti ◽  
Eike Berger ◽  
Rene Höhn ◽  
Gabriele Witt ◽  
...  
Keyword(s):  
Vitreous Hemorrhage ◽  
Stickler Syndrome ◽  
Col2a1 Mutation

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.

A novel deep intronic COL2A1 mutation in a family with early‐onset high myopia/ocular‐only Stickler syndrome

2020 ◽  
Vol 40 (3) ◽  
pp. 281-288 ◽  
Author(s):  
Wenmin Sun ◽  
Xueshan Xiao ◽  
Shiqiang Li ◽  
Xiaoyun Jia ◽  
Qingjiong Zhang
Keyword(s):  
Early Onset ◽  
High Myopia ◽  
Stickler Syndrome ◽  
Col2a1 Mutation

A Dermatoglyphics Study of Retinitis Pigmentosa– A Case Study

2012 ◽  
Vol 3 (5) ◽  
pp. 5-6
Author(s):  
Dr. Chandan Kumar Sinha ◽  
◽  
Amminabhavi Nazia Banu Nurahmad ◽  
Yogita Mallu Kattimani
Keyword(s):  
Retinitis Pigmentosa

Case of Unilateral retinitis pigmentosa

2014 ◽  
Vol 47 (1) ◽  
pp. 119-121
Author(s):  
A. Zborovskaya ◽  
◽  
A. Dorokhova ◽  
L. Uvarenko ◽  
A. Kurilyuk ◽  
...  
Keyword(s):  
Retinitis Pigmentosa
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