Abstract:
PURPOSE:The study was undertaken to investigate whether anterior segment findings are different in children with Down syndrome (DS) to normal children and to focus on its clinical significance. METHODS:A cross-sectional case control study was conducted in a total of 38 children with DS and 42 healthy children. This is the first report in the literature stating that. All subjects underwent ophthalmologic examination including slit-lamp biomicroscopy, cycloplegic refraction, intraocular pressure measurement and Scheimpflug imaging measurement. Customized software for Pentacam was used to analyze structural indices of anterior segment parameters. The mean anterior segment values of right eyes were compared between the groups. RESULTS:The mean anterior chamber parameters of patients with DS and controls were measured respectively: Corneal thickness was 502.31 ± 40.5 and 541.8 ± 37.42 mm (p < 0.001), corneal volume was 56.63 ± 4.5 and 61.02 ± 4.3 mm³ (p < 0.001), corneal radius curvature was 7.41 ± 0.29 and 7.67 ± 0.34 mm (p < 0.001), iridocorneal angle was 39.7 ± 6.2 and 39.5 ± 6.4° (p = 0.944), anterior chamber volume was 181.65 ± 27.38 and 185.77 ± 32.53 m³ (p = 0.528), anterior chamber depth was 3.08 ± 0.24 and 3.02 ± 0.31 mm (p = 447), pupil size was 2.95 ± 0.48 and 3.29 ± 0.45 mm (p < 0.05). CONCLUSION:The majority of the anterior segment parameters were found to be different in children with Down syndrome. While pupil size, corneal thickness, corneal volume and corneal curvature in DS were less than normal, iridocorneal angle, anterior chamber depth and anterior chamber volume were close to controls. The most important parametric differences in children with DS were seen on the cornea.
journal_name
Ophthalmic Genetjournal_title
Ophthalmic geneticsauthors
Aslan L,Aslankurt M,Aksoy A,Gümüşalan Ydoi
10.3109/13816810.2013.789535subject
Has Abstractpub_date
2014-06-01 00:00:00pages
74-8issue
2eissn
1381-6810issn
1744-5094journal_volume
35pub_type
杂志文章abstract:BACKGROUND AND OBJECTIVES:The retinal features of Alport syndrome include a central and peripheral fleck retinopathy, temporal retinal thinning, and a macular hole. Here we describe further retinal abnormalities. METHODS:We identified a case of bull's eye maculopathy 20 years previously in a 68-year-old female, and re...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2016.1210648
更新日期:2017-05-01 00:00:00
abstract::A considerable volume of literature has been published on the association of lacrimal outflow dysgenesis with developmental anomalies or systemic syndromes. We report three affected individuals in a consanguineous family those are associated with bilateral ptosis, upper ocular movement limitation, and absence of the l...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810902988772
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abstract::Background: Inherited retinal dystrophies are a leading cause of irreversible blindness in children in the United States. Topical carbonic anhydrase inhibitors have improved central vision and cystoid macular edema in patients with retinal dystrophies, but few studies have assessed their efficacy in children. Material...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
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更新日期:2019-08-01 00:00:00
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doi:10.1080/13816810.2020.1786842
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journal_title:Ophthalmic genetics
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810590918406
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2012.716488
更新日期:2012-12-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2018.1484927
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abstract::A Swedish family with choroideremia and a deletion of the CHM gene has been studied with ophthalmological examination, full-field electroretinography, and DNA analysis in order to characterize the phenotype of the disease. Although all four patients studied had a complete deletion of the gene, they showed a considerab...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816819509057855
更新日期:1995-12-01 00:00:00
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journal_title:Ophthalmic genetics
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pub_type: 杂志文章
doi:10.3109/13816810.2013.873941
更新日期:2015-01-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章,meta分析,评审
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更新日期:2017-07-01 00:00:00
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doi:10.1080/13816810.2016.1253104
更新日期:2017-09-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2010.512354
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pub_type: 杂志文章
doi:10.1080/13816810.2017.1381978
更新日期:2018-04-01 00:00:00
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journal_title:Ophthalmic genetics
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doi:10.1080/13816810.2019.1666414
更新日期:2019-08-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810.2018.1509351
更新日期:2018-10-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1076/opge.24.4.203.17232
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doi:10.3109/13816819609057870
更新日期:1996-06-01 00:00:00
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doi:10.1080/13816810.2018.1436183
更新日期:2018-06-01 00:00:00
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doi:10.1080/13816810.2020.1747093
更新日期:2020-04-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章,评审
doi:10.3109/13816810.2011.565397
更新日期:2011-09-01 00:00:00
abstract::Aicardi syndrome was originally described as a triad of partial or complete agenesis of the corpus callosum, infantile spasms, and pathognomic chorioretinal lacunae. Of approximately 200 cases reported since it was originally described in 1965, there have been no undisputed reports of Aicardi syndrome in a 46 XY male....
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810802320209
更新日期:2008-12-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2011.592176
更新日期:2011-11-01 00:00:00
abstract::We present six patients with typical Hallermann-Streiff syndrome. All have microphthalmia and were operated for congenital cataract. Three of the patients developed a severe glaucoma and one patient presented repeated uveal effusions. Five of our patients have the same pattern of corneal stromal opacities. The opaciti...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810802027101
更新日期:2008-06-01 00:00:00
abstract:PURPOSE:The associations between genetic variants located in CFH, CFB, ARMS2 and HTRA1 and the risk of age-related macular degeneration (AMD) in a northern Chinese population were investigated. METHODS:A case-control association study of 150 AMD patients and 145 ethnicity- and gender-matched controls were recruited. G...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2014.921314
更新日期:2014-09-01 00:00:00
abstract::Fundal opacities have been reported in patients with Gaucher disease, a rare autosomal recessive lysosomal storage disease, prior to the advent of optical coherent tomography. This report provides a detailed analysis of the fundal opacities in a 14-year-old girl with genetically proven Gaucher disease using spectral d...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2012.716489
更新日期:2012-12-01 00:00:00
abstract:PURPOSE:To report on a novel translocation related to a suprasellar primitive neuroectodermal tumor (sPNET) and retinoblastoma. DESIGN:Case report. METHODS:A 6-year-old girl underwent genetic testing after developing unilateral retinoblastoma subsequent to treatment (surgery, chemotherapy, and stem-cell rescue) for a...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2012.719058
更新日期:2013-03-01 00:00:00
abstract:BACKGROUND:Diabetic retinopathy (DR) is a severe complication of diabetes and a common cause of visual loss in adults. We aimed to assess the correlation between IL gene-related SNPs and the incidence of DR and attempted to predict DR with combined mutation site detection. METHODS:A systematic search of databases was ...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
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更新日期:2020-06-01 00:00:00