X-LINKED RETINOSCHISIS
X-LINKED RETINOSCHISIS
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DOI：
10.1136/bjo.79.7.697
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发表时间：
1995-07-01
影响因子：
4.1
通讯作者：
MOORE, AT
中科院分区：
文献类型：
--
作者：
GEORGE, NDL;YATES, JRW;MOORE, AT
背景哈斯在近世纪前的一篇题为“Ueber das Zusammenvorkommen von Veranderungen der Retina und Choroidea”的论文中首次描述了现在被认为是X连锁视网膜劈裂症（XLRS）的疾病。在他描述的两名男性的疾病的同时，还附有一幅典型的放射性囊性黄斑病的美丽图画。后来的作者没有观察到这些黄斑变化，而是描述了这种疾病的周边视网膜特征2 -4，这也许证明了他敏锐的观察力。虽然哈斯认为视网膜和脉络膜的变化是炎症性的起源，但Pagenstecher在大约15年后发表了一个家系，显示了X连锁的遗传模式。[5]该病的临床表现多种多样，过去对XLRS的命名也多种多样。在Jager创造X连锁视网膜劈裂症这一术语之前，“视网膜前脱离”、“男性神经视网膜疾病”、“先天性囊性视网膜脱离”、“先天性血管面纱”和“先天性视网膜脱离”被不同地用来描述这种疾病。[9]没有其他系统性的联系，经验也不支持Jager的断言，即所有受影响的患者都是“从他们年轻的时候起就非常难相处和极端易怒的人”！XLRS的临床特征在世界范围内被描述为白色、“0黑人”、12岁和亚洲人。3虽然被认为是一种罕见的疾病，但它的诊断率很低，是青少年黄斑变性最常见的原因之一。在芬兰描述了最大的一系列患者，
Background Haas first described what is now acknowledged as being X linked retinoschisis (XLRS) nearly a century ago in a paper entitled'Ueber das Zusammenvorkommen von Veranderungen der Retina und Choroidea'. I Accompanying his description of the disease in two males was a beautiful drawing of the typical radiatingcystic mac-ulopathy. The fact that subsequent authors failed to observe these macular changes and instead described the peripheral retinal features of the disease2-4 is testimony perhaps to his shrewd powers of observation. Although Haas believed the retinal and choroidal changes were inflammatory in origin, Pagenstecher published a pedigree some 15 years later which showed an X linked pattern of inheritance. 5 The variable clinical manifestations of the disease are exemplified by the wide variety of names that have been ascribed to XLRS in the past.'Anterior retinal dialysis', 6'neuroretinal disease in males', 7'congenital cystic detachment of the retina', 2 and'congenital vascular veils'8 were variously used to describe the condition before Jager coined the term X linked retinoschisis. 9 There areno other systemic associations and experience does not support Jager's assertion that all affected patients were'from their early youth very difficult and extremely irritable persons'!Clinical features XLRS has been described worldwidein white,'0 black," I 12 and Asian people.'3 Although considered a rare condition it is much underdiagnosed and is among the commonest causes of juvenile macular degeneration.'0 The largest series of patients has been described in Finland where