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Illustration of tessellation in Down syndrome.
Ophthalmic Genetics ( IF 1.2 ) Pub Date : 2020-03-23 , DOI: 10.1080/13816810.2020.1744021
Lavinia Postolache 1 , Casper De Jong 1 , Georges Casimir 2
Affiliation  

ABSTRACT

Background: Tessellated fundus refers to a specific change in the appearance of the internal layers of the eye in which the choroidal large vessels became visible through polygonal hypopigmented areas. Such hypopigmented areas alternate with hyperpigmented zones in a tigroid pattern. Fundus tessellation is often associated with myopia and choroidal thinning.

Materials and Methods: We analyzed fundus images from 50 children with Down syndrome and 52 controls.

Results: Tessellation was present in 64% of children with Down syndrome, compared with only 13.5% of controls (p < .0001). In most cases, tessellation was located peripapillary, and no difference was observed in tessellation localization between children with Down syndrome and controls (p = .60). Although more prevalent in myopic children with and without Down syndrome, tessellation was present in almost half (48%) of children with Down syndrome with hyperopia versus only 5% of controls with the same refractive status.

Conclusions: Mechanical stretching of the choroid could explain the high rate of tessellation in myopes. Other factors must contribute to the higher prevalence of tessellated fundus in children with Down syndrome without myopia. We discuss potentially relevant factors and propose vascular involvement as a contributor to tessellation in our population with Down syndrome. Further studies assessing choroidal vasculature in individuals with Down syndrome are needed to confirm this theory.



中文翻译:

唐氏综合症中镶嵌的插图。

摘要

背景:棋盘状眼底是指眼内层外观的特定变化,在该变化中,脉络膜大血管可通过多边形色素沉着的区域可见。这种色素沉着不足的区域与类色素沉着过度的区域交替出现。眼底镶嵌通常与近视和脉络膜变薄有关。

材料和方法:我们分析了50名唐氏综合症患儿和52名对照的眼底图像。

结果:唐氏综合症患儿中存在棋盘形装饰的比例为64%,而对照组仅为13.5%(p <.0001)。在大多数情况下,棋盘格位于乳头周围,唐氏综合症患儿与对照组之间的棋盘格定位没有差异(p = 0.60)。尽管在患有和不患有唐氏综合症的近视儿童中更为普遍,但在远视的唐氏综合症儿童中,近半数(48%)出现了镶嵌细分,而屈光状态相同的对照组中只有5%。

结论:脉络膜的机械拉伸可以解释近视眼的高镶嵌率。其他因素必须促使无近视的唐氏综合症儿童的棋盘状眼底患病率更高。我们讨论了潜在的相关因素,并提出了血管受累作为唐氏综合症患者镶嵌细分的贡献者。需要进一步研究评估唐氏综合症患者的脉络膜脉管系统,以证实这一理论。

更新日期:2020-04-23
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