Literature DB >> 33397304

Choroidal and peripapillary changes in high myopic eyes with Stickler syndrome.

Olivia Xerri1, Federico Bernabei2, Elise Philippakis3, Cyril Burin-Des-Roziers2,4, Pierre-Olivier Barale5, Olivier Laplace5, Claire Monin5, Dominique Bremond-Gignac1,4, Gilles Guerrier6, Sophie Valleix4,7, Antoine Brezin2,4, Pierre-Raphaël Rothschild8,9.   

Abstract

BACKGROUND: To compare different clinical and Spectral-Domain Optical Coherence Tomography (SD-OCT) features of high myopic eyes with Stickler syndrome (STL) with matched controls.
METHODS: Patients with genetically confirmed STL with axial length ≥ 26 mm and controls matched for axial length were included. The following data were obtained from SD-OCT scans and fundus photography: choroidal and retinal thickness (respectively, CT and RT), peripapillary atrophy area (PAA), presence of posterior staphyloma (PS).
RESULTS: Twenty-six eyes of 17 patients with STL and 25 eyes of 19 controls were evaluated. Compared with controls, patients with STL showed a greater CT subfoveally, at 1000 μm from the fovea at both nasal and temporal location, and at 2000 and 3000 μm from the fovea in nasal location (respectively, 188.7±72.8 vs 126.0±88.7 μm, 172.5±77.7 vs 119.3±80.6 μm, 190.1±71.9 vs 134.9±79.7 μm, 141.3±56.0 vs 98.1±68.5 μm, and 110.9±51.0 vs 67.6±50.7 μm, always P< 0.05). Furthermore, patients with STL showed a lower prevalence of PS (11.5% vs 68%, P< 0.001) and a lower PAA (2.2±2.1 vs 5.4±5.8 mm2, P=0.03), compared with controls.
CONCLUSIONS: This study shows that high myopic patients with STL show a greater CT, a lower PAA and a lower prevalence of PS, compared with controls matched for axial length. These findings could be relevant for the development and progression of myopic maculopathy in patients with STL.

Entities:  

Keywords:  Choroidal thickness; Congenital myopia; Hereditary vitreopathy; High myopia; Stickler syndrome

Mesh:

Year:  2021        PMID: 33397304      PMCID: PMC7784261          DOI: 10.1186/s12886-020-01777-3

Source DB:  PubMed          Journal:  BMC Ophthalmol        ISSN: 1471-2415            Impact factor:   2.209


  27 in total

Review 1.  Updates of pathologic myopia.

Authors:  Kyoko Ohno-Matsui; Timothy Y Y Lai; Chi-Chun Lai; Chiu Ming Gemmy Cheung
Journal:  Prog Retin Eye Res       Date:  2016-01-06       Impact factor: 21.198

2.  Macular choroidal thickness and volume in normal subjects measured by swept-source optical coherence tomography.

Authors:  Masaya Hirata; Akitaka Tsujikawa; Akiko Matsumoto; Masanori Hangai; Sotaro Ooto; Kenji Yamashiro; Masahiro Akiba; Nagahisa Yoshimura
Journal:  Invest Ophthalmol Vis Sci       Date:  2011-07-01       Impact factor: 4.799

3.  A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome.

Authors:  Stuart Baker; Carol Booth; Corrine Fillman; Michael Shapiro; Michael P Blair; James C Hyland; Leena Ala-Kokko
Journal:  Am J Med Genet A       Date:  2011-06-10       Impact factor: 2.802

Review 4.  Clinical variability of Stickler syndrome: role of exon 2 of the collagen COL2A1 gene.

Authors:  Larry A Donoso; Albert O Edwards; Arcilee T Frost; Robert Ritter; Nina Ahmad; Tamara Vrabec; Jerry Rogers; David Meyer; Scott Parma
Journal:  Surv Ophthalmol       Date:  2003 Mar-Apr       Impact factor: 6.048

5.  A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen.

Authors:  A J Richards; J R Yates; R Williams; S J Payne; F M Pope; J D Scott; M P Snead
Journal:  Hum Mol Genet       Date:  1996-09       Impact factor: 6.150

6.  Foveal Hypoplasia in Patients with Stickler Syndrome.

Authors:  Itsuka Matsushita; Tatsuo Nagata; Takaaki Hayashi; Kenichi Kimoto; Toshiaki Kubota; Masahito Ohji; Shunji Kusaka; Hiroyuki Kondo
Journal:  Ophthalmology       Date:  2017-03-07       Impact factor: 12.079

7.  Radial perivascular retinal degeneration: a key to the clinical diagnosis of an ocular variant of Stickler syndrome with minimal or no systemic manifestations.

Authors:  Edward S Parma; Jarmo Körkkö; William S Hagler; Leena Ala-Kokko
Journal:  Am J Ophthalmol       Date:  2002-11       Impact factor: 5.258

8.  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

9.  Stickler's syndrome (hereditary progressive arthro-ophthalmopathy).

Authors:  J S Popkin; R C Polomeno
Journal:  Can Med Assoc J       Date:  1974-11-16       Impact factor: 8.262

10.  Pierre Robin sequence in Denmark: a retrospective population-based epidemiological study.

Authors:  Andreas Printzlau; Mikael Andersen
Journal:  Cleft Palate Craniofac J       Date:  2004-01
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