Ocular status of boys with fragile X syndrome: a prospective study.
Ocular status of boys with fragile X syndrome: a prospective study.
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DOI：
10.1016/s1091-8531(98)90087-8
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发表时间：
1998-10-01
期刊：
影响因子：
--
通讯作者：
Roberts, J
中科院分区：
文献类型：
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作者：
Hatton, D D;Buckley, E;Roberts, J
目的：本研究的目的是确定先前关于脆性 X 综合征个体的回顾性报告中描述的高比例眼部问题是否存在于年轻男孩的前瞻性样本中。脆性 X 综合征目前被认为是智力低下的主要原因，其患病率估计为 1:2500 至 1:5000 男性。方法：对 48 名年龄在 2.5 岁至 11 岁之间患有脆性 X 综合征的男孩进行眼部异常评估。他们接受了完整的眼科评估，包括视力评估、散瞳验光、眼球运动评估和散瞳眼底检查。 结果：大约 25% 的儿童有临床上显着的眼部检查结果，包括屈光不正（17%，主要是远视和散光）和斜视（8%）。在 42 名具有可量化视力的儿童中，只有 1 名被诊断为眼球震颤和远视的儿童的斯内伦视力超出了其年龄的正常范围。对 5 名儿童进行了视力粗略测量，其中 3 名具有临床意义：2 名远视超过 3.5 屈光度，1 名内斜视。另外 2 名进行了视力粗略测量的儿童和 1 名未进行视力评估的儿童的散瞳屈光度为 +1.25 至 +1.5，眼球运动似乎正常。 结论：这些结果表明，之前关于脆性 X 综合征男孩视力问题（尤其是斜视）发生率较高的报道可能是由于选择偏差造成的。尽管我们确实观察到斜视患病率高于一般人群（8% vs 0.5% 至 1%），但我们样本中患有斜视的儿童比例远小于其他脆性 X 综合征儿童研究报告的比例（30% 至 40%）。然而，17% 的样本确实存在明显的屈光不正。除了评估脆性X综合征儿童的眼球运动情况外，还应进行散瞳验光以确定是否存在屈光问题。
PURPOSE: The purpose of this study was to determine whether the high rates of ocular problems described in previous retrospective reports of individuals with fragile X syndrome were present in a prospective sample of young boys. Fragile X syndrome is currently considered the leading hereditary cause of mental retardation, with prevalence estimates of 1:2500 to 1:5000 males.METHODS: Forty-eight boys with fragile X syndrome between the ages of 2.5 and 11 years were evaluated for ocular abnormalities. They received complete ophthalmic evaluations including assessment of visual acuity, cycloplegic refraction, ocular motility assessment, and dilated fundus examination.RESULTS: Approximately 25% of the children had clinically significant ocular findings that included refractive errors (17%, primarily hyperopia and astigmatism) and strabismus (8%). Of the 42 children with quantifiable visual acuities, only 1 child, with diagnoses of nystagmus and hyperopia, had a Snellen visual acuity that was not within normal limits for his age. Three of the 5 children with gross measures of visual acuity had clinically significant findings: 2 had hyperopia greater than 3.5 diopters and 1 had esotropia. The other 2 children with gross measures of acuity and the 1 child without visual acuity assessment had cycloplegic refractions of +1.25 to +1.5 and ocular motility appeared normal.CONCLUSIONS: These results suggest that previous reports of high rates of vision problems, particularly strabismus, in boys with fragile X syndrome may have resulted from selection bias. Although we did observe a higher prevalence of strabismus than that found in the general population (8% vs 0.5% to 1%), the proportion of children having strabismus in our sample was much smaller than that reported in other studies of children with fragile X syndrome (30% to 40%). However, 17% of the sample did have significant refractive errors. In addition to evaluating the ocular motility of children with fragile X syndrome, cycloplegic refraction should also be performed to determine whether refractive problems are present.