Literature DB >> 8909215

Long-term follow-up of ocular findings in children with Stickler's syndrome.

M C Wilson1, D M McDonald-McGinn, G E Quinn, G D Markowitz, D LaRossa, A D Pacuraru, X Zhu, E H Zackai.   

Abstract

PURPOSE: To document the longitudinal changes in eye status of children diagnosed with Stickler's syndrome in the first decade of life.
METHOD: All patients with cleft palate were referred for eye examination. Of these, patients with systemic findings of Stickler's syndrome were included in this report.
RESULTS: Thirty-four eyes in 17 patients met inclusion criteria, with median best-corrected recognition acuity of 20/30. The mean cycloplegic refraction at presentation was -5.00 diopters, and the mean refraction at last visit was -5.50 diopters.
CONCLUSIONS: Refractive errors, cataracts, and vitreoretinal abnormalities can be detected early in life in patients with Stickler's syndrome, and refractive error changed little during the follow-up period.

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Mesh:

Year:  1996        PMID: 8909215     DOI: 10.1016/s0002-9394(14)70494-5

Source DB:  PubMed          Journal:  Am J Ophthalmol        ISSN: 0002-9394            Impact factor:   5.258


  3 in total

Review 1.  Emmetropisation and the aetiology of refractive errors.

Authors:  D I Flitcroft
Journal:  Eye (Lond)       Date:  2014-01-10       Impact factor: 3.775

2.  Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination.

Authors:  Arif O Khan; Lama AlAbdi; Nisha Patel; Rana Helaby; Mais Hashem; Firdous Abdulwahab; Fahad B AlBadr; Fowzan S Alkuraya
Journal:  Mol Genet Genomic Med       Date:  2021-05-05       Impact factor: 2.183

3.  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

  3 in total

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