Stickler Syndrome

Aylward, Bill; daCruz, Lyndon; Ezra, Eric; Sullivan, Paul; MacLaren, Robert E.; Charteris, David G.; Gregor, Zdeněk; Bainbridge, James; Minihan, M.

doi:10.1016/j.ophtha.2008.04.018

Cited by 6 publications

(5 citation statements)

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“…Based on the clinical and genetic features, 14 cases (23.3%) were confirmed as familial exudative vitreoretinopathy (FEVR, indicated by the presence of abnormal retinal features including peripheral avascular area, vascular straightening, and increased branching ( 18 , 19 )) and 10 cases (16.7%) were diagnosed as STL (indicated by the presence of vitreous membrane ( 20 , 21 )) ( Table 1 ). SHM was diagnosed in 20 (33.3%) children.…”

Section: Resultsmentioning

confidence: 99%

Pattern of choroidal thickness in early-onset high myopia

et al. 2023

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PurposeTo explore the etiology and choroidal thickness (ChT) pattern in children with early-onset high myopia (eoHM).MethodsSixty children with eoHM and 20 healthy controls were enrolled in this study between January 2019 and December 2021. All children underwent comprehensive ophthalmologic examinations including swept-source optical coherence tomography. ChT was measured in the subfoveal region and at 1000 μm and 2,500 μm nasal, temporal, superior, and inferior to the fovea.ResultsOverall, 120 eyes of 60 children with eoHM were examined (mean spherical equivalent, −8.88 ± 3.05 D; mean axial length, 26.07 ± 1.59 mm). Simple high myopia (SHM), familial exudative vitreoretinopathy (FEVR), and Stickler syndrome (STL) were the most frequent etiologies of eoHM and were included in further ChT analysis. Adjusted the effect of SE, multivariate regression analysis showed that children with SHM had thinnest ChT at N2500 and I2500 among the subgroups (p = 0.039, p = 0.013). FEVR group showed thinner ChT at T2500 (p = 0.023), while STL patients exhibited thin ChT at all locations.ConclusionThis study revealed that SHM, STL and FEVR was the most frequent etiology, and showed a distinctive pattern of ChT. Asymmetric nasal ChT thinning is a distinctive biomarker for SHM, asymmetric temporal ChT thinning might serve as a biomarker for FEVR, and symmetric diffuse thinning is more common in STL. These ChT patterns may provide a convenient, fast, and noninvasive strategy to differentiate the potential etiology of eoHM.

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Section: Resultsmentioning

confidence: 99%

Pattern of choroidal thickness in early-onset high myopia

et al. 2023

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“…The clinical manifestation of Stickler syndrome is heterogeneous ( 3 - 5 ). Retinal detachment is the most severe consequence of Stickler syndrome ( 34 ), and there is a high incidence of blindness.…”

Section: Discussionmentioning

confidence: 99%

“…The diagnostic criteria for Stickler syndrome have not been well-established ( 5 , 10 ). Adult patients diagnosed with Stickler syndrome typically do not present with typical facial anomalies as children ( 41 ).…”

Section: Discussionmentioning

confidence: 99%

“…108300, 609508, 604841,184840, 614134 and 614284], first reported in 1965 by Stickler et al ( 1 ), is a group of inherited connective tissue disorders, with an incidence of 1 in 10,000 ( 2 , 3 ). Stickler syndrome is frequently misdiagnosed due to its widely varied clinical manifestations, which may resemble other diseases ( 4 , 5 ). It commonly involves distinctive ocular and facial abnormalities, hearing loss and joint problems ( 3 , 6 - 8 ).…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2018

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Stickler syndrome is a group of inherited connective tissue disorders characterized by distinctive facial and ocular abnormalities, hearing loss and early-onset arthritis. The aim of the present study was to investigate the genetic changes in two Chinese patients with Stickler syndrome, manifested as bilateral retinal detachment and peripheral retinal degeneration. Complete ophthalmic examinations, including best-corrected visual acuity, slit-lamp examination and fundus examination, were performed. Genomic DNA was extracted from leukocytes of the peripheral blood collected from the patients, their unaffected family members and 200 unrelated control subjects from the same population. Next-generation sequencing of established genes associated with ocular disease was performed. A heterozygous collagen type II α1 chain (COL2A1) mutation c.1310G>C (p.R437P) in exon 21 was identified in Family 1 and a heterozygous COL2A1 mutation c.2302-1G>A in intron 34 was identified in Family 2. The functional effects of the mutations were assessed by polymorphism phenotyping (PolyPhen) and sorting intolerant from tolerant (SIFT) analysis. The c.1310G>C mutation was predicted to damage protein structure and function, and the c.2302-1G>A mutation was predicted to result in a splicing defect. The findings of the current study expand the established mutation spectrum of COL2A1, and may facilitate genetic counseling and development of therapeutic strategies for patients with Stickler syndrome.

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“…This association of ocular and articular involvement caused to be termed as hereditary progressive arthro-ophthalmopathy. ERG responses are generally normal in Stickler syndrome, however, high myopia and retinal detachment may produce reduced amplitudes (Aylward et al, 2008). …”

Section: Stickler Syndromementioning

confidence: 99%