Literature DB >> 32604152

Case Series of Stickler Syndrome Presenting With Acute Angle Closure.

Alexander Walters1, Nathan Lambert, Seth Bricel, Thomas Hwang, Eliesa Ing, Shandiz Tehrani.   

Abstract

PURPOSE: Stickler syndrome is associated with open-angle glaucoma, but no reports exist of adults presenting with acute angle closure. Here, we report the clinical associations and short-term outcomes in 2 patients with Stickler syndrome who presented with acute angle closure at a single tertiary referral center. OBSERVATIONS: A 36-year-old female with Stickler syndrome presented with acute onset of red and painful left eye with cloudy vision. Initial intraocular pressure (IOP) was measured to be 54 mm Hg. Gonioscopy revealed no angle structures or peripheral anterior synechiae in the left eye. Two laser peripheral iridotomies were created 5 days apart without adequate IOP lowering. Left eye cataract extraction with intraocular lens implantation and Ahmed glaucoma drainage device implantation were performed with resolution of ocular hypertension.A 35-year-old male with Stickler syndrome presented with intermittent right eye pain and blurry vision. IOP was 42 mm Hg and gonioscopy revealed 270 degrees of angle closure in the right eye. The patient underwent laser peripheral iridotomy in the right eye with resolution of ocular hypertension by the next day.
CONCLUSIONS: Recognizing angle closure as a potential feature of Stickler syndrome can help providers adequately screen and manage patients with Stickler syndrome presenting with acutely elevated IOP.

Entities:  

Mesh:

Year:  2020        PMID: 32604152      PMCID: PMC7541778          DOI: 10.1097/IJG.0000000000001591

Source DB:  PubMed          Journal:  J Glaucoma        ISSN: 1057-0829            Impact factor:   2.290


  7 in total

1.  Retinal detachment and infantile-onset glaucoma in Stickler syndrome associated with known and novel COL2A1 mutations.

Authors:  Thomas J Wubben; Kari H Branham; Cagri G Besirli; Brenda L Bohnsack
Journal:  Ophthalmic Genet       Date:  2018-08-21       Impact factor: 1.803

2.  Stickler's syndrome: a study of 12 families.

Authors:  A Spallone
Journal:  Br J Ophthalmol       Date:  1987-07       Impact factor: 4.638

3.  Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.

Authors:  Allan J Richards; Annie McNinch; Howard Martin; Kim Oakhill; Harjeet Rai; Sarah Waller; Becky Treacy; Joanne Whittaker; Sarah Meredith; Arabella Poulson; Martin P Snead
Journal:  Hum Mutat       Date:  2010-06       Impact factor: 4.878

4.  Clinical evaluation and COL2A1 gene analysis in 21 Brazilian families with Stickler syndrome: identification of novel mutations, further genotype/phenotype correlation, and its implications for the diagnosis.

Authors:  Roseli Maria Zechi-Ceide; Nélio Alessando Jesus Oliveira; Maria Leine Guion-Almeida; Luís Fernando B B Antunes; Antonio Richieri-Costa; Maria Rita Santos Passos-Bueno
Journal:  Eur J Med Genet       Date:  2008-01-09       Impact factor: 2.708

5.  A novel dominant COL11A1 mutation in a child with Stickler syndrome type II is associated with recurrent fractures.

Authors:  M G Vogiatzi; D Li; L Tian; J P Garifallou; C E Kim; H Hakonarson; M A Levine
Journal:  Osteoporos Int       Date:  2017-10-03       Impact factor: 4.507

6.  Significant ocular findings are a feature of heritable bone dysplasias resulting from defects in type II collagen.

Authors:  Sarah P Meredith; Allan J Richards; Philip Bearcroft; Arabella V Pouson; Martin P Snead
Journal:  Br J Ophthalmol       Date:  2007-03-08       Impact factor: 4.638

7.  Proteomic Analysis of the Bovine and Human Ciliary Zonule.

Authors:  Alicia De Maria; Phillip A Wilmarth; Larry L David; Steven Bassnett
Journal:  Invest Ophthalmol Vis Sci       Date:  2017-01-01       Impact factor: 4.799

  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.