Characterization of the peripheral retinopathy in X-linked and autosomal recessive Alport syndrome.
Characterization of the peripheral retinopathy in X-linked and autosomal recessive Alport syndrome.
复制标题
X 连锁和常染色体隐性遗传 Alport 综合征周围视网膜病变的特征。
DOI：
10.1093/ndt/gfl607
复制
发表时间：
2005
期刊：
影响因子：
--
通讯作者：
J. Savige
中科院分区：
文献类型：
--
作者：
Elizabeth A Shaw;D. Colville;Yan Yan Wang;K. Zhang;H. Dagher;R. Fassett;Robyn Guymer;J. Savige
背景
Alport综合征是一种遗传性疾病，可导致肾衰竭、听力丧失和眼部异常。然而，Alport综合征通常未被识别，本研究的目的是描述相关但很少描述的外周视网膜病变，并确定其表现是否有助于诊断。
方法
索引病例在其自身或家庭成员的肾活检中被诊断为Alport综合征。分别使用COL 4A 5和COL 4A 3/COL 4A 4位点的微卫星标记确定遗传和受影响状态。参与者的眼睛被放大，并由不了解患者疾病状态的眼科专家进行直接和间接检眼镜检查以及裂隙灯生物显微镜检查。
结果
研究了10名男性和9名女性X连锁Alport综合征和7名常染色体隐性遗传病。在26例患者中，16例患有中心视网膜病变（62%），19例患有外周视网膜病变（74%）。外周改变发生在男性和女性的X-连锁和常染色体隐性遗传Alport综合征，并更常见于肾功能衰竭，听力损失，圆锥形晶状体和中央的变化，但也注意到在3个X-连锁携带者与正常肾功能。
结论
外周视网膜病变发生在X连锁和常染色体隐性遗传的Alport综合征，即使中央视网膜病变不存在。仔细的视网膜检查和摄影，包括周边是一个安全和廉价的方法，可能有助于诊断Alport综合征，特别是在携带者的X-连锁疾病。
BACKGROUND
Alport syndrome is an inherited disease resulting in kidney failure, hearing loss and ocular abnormalities. Alport syndrome is however often unrecognized, and the aim of this study was to characterize the associated but rarely described peripheral retinopathy and determine whether its demonstration was diagnostically helpful.
METHODS
Index cases were diagnosed with Alport syndrome on renal biopsy in themselves or a family member. Inheritance and affected status were determined using microsatellite markers at the COL4A5 and COL4A3/COL4A4 loci, respectively. Participants' eyes were dilated, and examined with direct and indirect ophthalmoscopy, and slit lamp biomicroscopy by an expert ophthalmologist who was unaware of the patients' disease status.
RESULTS
Ten males and nine females with X-linked Alport syndrome and seven with autosomal recessive disease were studied. Of the 26 patients, 16 had central retinopathy (62%), and 19 patients had peripheral retinopathy (74%). The peripheral changes occurred in both males and females with X-linked and autosomal recessive Alport syndrome, and were more common when renal failure, hearing loss, lenticonus and the central changes were present, but were also noted in 3 X-linked carriers with normal renal function.
CONCLUSIONS
The peripheral retinopathy occurs in X-linked and autosomal recessive Alport syndrome even when the central retinopathy is absent. Careful retinal examination and photography that includes the periphery is a safe and inexpensive method that may help in the diagnosis of Alport syndrome especially in carriers of X-linked disease.
影响因子：
56.9
作者：
BARKER, DF;HOSTIKKA, SL;TRYGGVASON, K
通讯作者：
TRYGGVASON, K