The ophthalmological course of Usher syndrome type III
The ophthalmological course of Usher syndrome type III
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III型Usher综合征的眼科病程
DOI：
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发表时间：
1995
期刊：
影响因子：
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通讯作者：
H. Puhakka
中科院分区：
文献类型：
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作者：
L. Pakarinen;K. Tuppurainen;P. Laippala;M. Mäntyjärvi;H. Puhakka
Usher综合征是一种隐性遗传性疾病，具有临床和遗传异质性，导致中年前听力和视力障碍。这是导致聋盲的最常见原因。已知有三种不同的表型和五种不同的基因类型。在芬兰，已知的Usher类型的分布与其他地方不同。Usher综合征III型(USH3)在芬兰很常见，被认为包括40%的患者。进行性听力损失是USH3的特点。在其他地方，USH3被认为是罕见的，只覆盖了整个亚瑟族人口的百分之几。本文的目的是首次描述USH3的视力障碍和典型屈光不正的过程，并与其他类型的USH3进行比较。从由229名芬兰USH患者组成的总患者样本中，对200名患者的视力结果进行了多中心回溯性随访研究。在10年的随访期内，不同类型的USH的平均进展率相似。基本进展发生在40岁以下，并一直持续到40岁。视力在37岁时降至0.05以下(严重损害)，平均年龄30岁时视野呈管状，无任何外周岛屿。临床上有散光的远视似乎是USH3的一种病因学临床症状。
Usher syndrome is a recessive hereditary disease group with clinical and genetical heterogeneity leading to handicapped hearing and visual loss until middle age. It is the most common cause for deaf-blindness. Three distinct phenotypes and five distinct genotypes are already known. In Finland the distribution of known Usher types is different than elsewhere. Usher syndrome type III (USH3) is common in Finland and it is thought to include 40% of patients. Progressive hearing loss is characteristic of USH3. Elsewhere USH3 has been regarded as a rarity covering only several percent of the whole Usher population. The aim of this paper is to describe, for the first time, the course of visual handicap and typical refractive errors in USH3 and compare it with other USH types. From a total patient sample consisting of 229 Finnish USH patients, 200 patients' visual findings were analyzed in a multicenter retrospective follow-up study. The average progress rate during a 10-year follow-up period in different USH types was similar. The essential progress occurred below the age of 40 and was continuous up to that age. Visual acuity dropped below 0.05 (severely impaired) at the age of 37 and the visual fields were of tubular shape without any peripheric islands at the average age of 30. Clinically significant hypermetropia with astigmatism seems to be a pathognomonic clinical sign of USH3.