Literature DB >> 25817961

Stickler syndrome. Epidemiology of retinal detachment.

F Vilaplana1, S J Muiños2, J Nadal2, J Elizalde2, S Mojal3.   

Abstract

OBJECTIVE: A review was performed on all patients with Stickler syndrome that had been treated in our Centre since it was diagnosed, in order to evaluate the risk of suffering a retinal detachment (RD).
METHODS: A total of 14 patients, diagnosed by clinical criteria, were included. The following variables were evaluated: age, gender, ocular background, follow-up, initial and final visual acuity (VA), optical prescription, prophylactic treatment, surgery and techniques performed. The risk age to suffer a RD, as well as cataracts, was determined by using the Kaplan-Meier survival curve analysis.
RESULTS: From a total of 5 men and 9 women, the median initial VA was 0.35, which was the same as the final VA. The median optical prescription was -9.5 D myopia. The median of follow-up was 7 years. Ocular background was 4 RD cases and 2 Lasik surgeries. The operations performed were 8 RD, 12 cataract, 2 glaucoma, 2 macular hole, and one endotropia. The median age of RD was 20 years and cataract 34 years. As regards surgical tecnique, 4 scleral buckle cases, and 4 scleral buckle+pars plana vitrectomy cases were formed. The prophylactic treatments performed were: one scleral buckle case, 4 endolaser photocoagulation, and one cryotherapy. Two of which presented with RD.
CONCLUSION: In the series presented, retinal detachment in Stickler syndrome mainly occurs in the second decade of life, with cataracts mainly developing in the fourth decade.
Copyright © 2014 Sociedad Española de Oftalmología. Published by Elsevier España, S.L.U. All rights reserved.

Entities:  

Keywords:  Agujero macular; Cataract; Catarata; Desprendimiento de retina; Glaucoma; Macular hole; Retinal detachment; Sickler syndrome; Síndrome de Stickler; Vitrectomy; Vitrectomía

Mesh:

Year:  2015        PMID: 25817961     DOI: 10.1016/j.oftal.2014.11.001

Source DB:  PubMed          Journal:  Arch Soc Esp Oftalmol        ISSN: 0365-6691


  4 in total

1.  Deficiency in Lyst function leads to accumulation of secreted proteases and reduced retinal adhesion.

Authors:  Xiaojie Ji; Lihong Zhao; Ankita Umapathy; Bernard Fitzmaurice; Jieping Wang; David S Williams; Bo Chang; Jürgen K Naggert; Patsy M Nishina
Journal:  PLoS One       Date:  2022-03-03       Impact factor: 3.752

2.  Retinal Pigment Epithelium Atrophy 1 (rpea1): A New Mouse Model With Retinal Detachment Caused by a Disruption of Protein Kinase C, θ.

Authors:  Xiaojie Ji; Ye Liu; Ron Hurd; Jieping Wang; Bernie Fitzmaurice; Patsy M Nishina; Bo Chang
Journal:  Invest Ophthalmol Vis Sci       Date:  2016-03       Impact factor: 4.799

3.  Case Report of a Family Affected by Stickler Syndrome in Which Rhegmatogenous Retinal Detachment Occurred in Five Eyes of Three Siblings.

Authors:  Daisaku Kimura; Takaki Sato; Shou Oosuka; Ryohsuke Kohmoto; Masanori Fukumoto; Masashi Mimura; Kensuke Tajiri; Takatoshi Kobayashi; Teruyo Kida; Tsunehiko Ikeda
Journal:  Case Rep Ophthalmol       Date:  2018-01-04

4.  Targeted next‑generation sequencing identifies two novel COL2A1 gene mutations in Stickler syndrome with bilateral retinal detachment.

Authors:  Xinhua Huang; Ying Lin; Chuan Chen; Yi Zhu; Hongbin Gao; Tao Li; Bingqian Liu; Cancan Lyu; Ying Huang; Qingxiu Wu; Haichun Li; Chenjin Jin; Xiaoling Liang; Lin Lu
Journal:  Int J Mol Med       Date:  2018-07-04       Impact factor: 4.101

  4 in total

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