Amin V R, Maino D M
Illinois College of Optometry, Department of Pediatrics/Binocular Vision, Chicago 60616, USA.
J Am Optom Assoc. 1995 May;66(5):290-5.
Fragile X syndrome is one of the most frequently encountered etiologies of X-linked mental retardation. Even though it is second only to Down syndrome in prevalence among children with chromosomal abnormalities, few studies have investigated the visual, visual perceptual and ocular health anomalies associated with this syndrome. No studies have been published that report on these areas for females with fragile X. This case report describes a 10-year-old white female with fragile X syndrome who exhibited numerous oculo-visual and perceptual abnormalities.
A 10-year, 7-month-old white female diagnosed as having fragile X syndrome was examined in the Illinois Eye Institute/Illinois College of Optometry Department of Pediatrics and Binocular Vision using diagnostic techniques appropriate for special populations. These techniques included a battery of tests that determine binocular vision function, ocular health status and visual perceptual abilities.
Oculo-visual abnormalities noted include a non-active chorioretinal lesion, refractive amblyopia, anisometropia, accommodative insufficiency, and convergence excess, as well as mild to severe dysfunctions in visual motor integration, ocular motilities, laterality/directionality, visual figure ground, visual closure, visual form constancy, visual memory and visual sequential memory.
Although thousands of articles, monographs, and textbooks have been written describing the numerous anomalies associated with the fragile X syndrome, little has been published in the area of oculo-visual and visual perceptual dysfunctions associated with this frequently encountered genetic abnormality. This paper is the first to demonstrate the presence of ocular health anomalies and learning-related vision problems that could adversely affect the individual's academic performance and rehabilitative program. Additional research is needed to ascertain the prevalence of these disorders within the fragile X community.
脆性X综合征是X连锁智力障碍最常见的病因之一。尽管在染色体异常儿童中其患病率仅次于唐氏综合征，但很少有研究调查与该综合征相关的视觉、视觉感知和眼部健康异常情况。尚无关于脆性X女性患者这些方面的研究发表。本病例报告描述了一名患有脆性X综合征的10岁白人女性，她表现出众多眼视觉和感知异常。
一名被诊断为患有脆性X综合征的10岁7个月大的白人女性，在伊利诺伊眼科学院/伊利诺伊视光学院儿科学与双眼视觉系，使用适合特殊人群的诊断技术进行了检查。这些技术包括一系列用于确定双眼视觉功能、眼部健康状况和视觉感知能力的测试。
发现的眼视觉异常包括非活动性脉络膜视网膜病变、屈光性弱视、屈光参差、调节不足和集合过度，以及视觉运动整合、眼球运动、左右/方向性、视觉背景分辨、视觉闭合、视觉形状恒常性、视觉记忆和视觉序列记忆方面的轻度至重度功能障碍。
尽管已经撰写了数千篇文章、专著和教科书来描述与脆性X综合征相关的众多异常情况，但在与这种常见遗传异常相关的眼视觉和视觉感知功能障碍领域发表的内容很少。本文首次证明了存在可能对个体学业成绩和康复计划产生不利影响的眼部健康异常和与学习相关的视力问题。需要进一步研究以确定这些疾病在脆性X群体中的患病率。
