Autosomal recessive retinitis pigmentosa with preserved para-arteriolar retinal pigment epithelium.
Autosomal recessive retinitis pigmentosa with preserved para-arteriolar retinal pigment epithelium.
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常染色体隐性遗传色素性视网膜炎，伴有保留的小动脉旁视网膜色素上皮。
DOI：
10.1016/s0002-9394(14)75792-7
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发表时间：
1994
影响因子：
4.2
通讯作者：
E. Bleeker
中科院分区：
文献类型：
--
作者：
L. I. van den Born;S. van Soest;M. V. van Schooneveld;Frans C. C. Riemslag;Paulus T.V.M. de Jong;E. Bleeker
保留小动脉旁视网膜色素上皮的色素性视网膜炎是一种罕见的色素性视网膜炎，在生命早期开始，视网膜小动脉附近和下方的视网膜色素上皮保存，迄今为止被描述为一种孤立的形式。我们检查了来自一个大家庭的22例患者，以及两个孤立的患者，并证实了这种色素性视网膜炎的常染色体隐性遗传模式。视网膜色素变性伴小动脉旁视网膜色素上皮保存的新发现包括：24例患者中有4例（17%）的小行星状透明质变性，24例患者中有11例（46%）的视网膜小动脉弯曲，24例患者中有8例（33%）的外周血管混浊，24例患者中有13例（54%）的外周视网膜色素上皮不仅保存了小动脉旁色素上皮，而且保存了外周视网膜色素上皮。先前报道的这些患者的症状有眼球震颤6例（25%），远视23例（96%），视神经头水肿9例（38%），血管鞘11例（46%），黄斑病变全部24例（100%），后极黄圆沉积物9例（38%），类似科茨氏病的渗出物2例（8%），视野缺损全部24例（100%）。23名患者中有21人（91%）的视网膜电图是不可扣除的。在大家族中进行的连锁分析发现，保留小动脉旁视网膜色素上皮的视网膜色素变性基因被分配到染色体1q31-q32.1上。
Retinitis pigmentosa with preserved para-arteriolar retinal pigment epithelium is a rare form of retinitis pigmentosa that starts early in life with preservation of retinal pigment epithelium adjacent to and under the retinal arterioles and that has hitherto been described as an isolated form. We examined 22 patients from one large family, together with two isolated patients, and confirmed the presumed autosomal recessive mode of inheritance in this type of retinitis pigmentosa. New findings associated with retinitis pigmentosa with preserved para-arteriolar retinal pigment epithelium were asteroid hyalosis in four (17%) of 24 patients, tortuosity of retinal arterioles in 11 (46%) of 24 patients, peripheral regions of opacified vessels in eight (33%) of 24 patients, and preservation not only of the para-arteriolar pigment epithelium, but also of the peripheral retinal pigment epithelium in 13 (54%) of 24 patients. Previously reported signs present in these patients were nystagmus in six (25%) of 24 patients, hypermetropia in 23 (96%) of 24 patients, optic nerve head drusen in nine (38%) of 24 patients, vascular sheathing in 11 (46%) of 24 patients, maculopathy in all 24 patients (100%), yellow round deposits in the posterior pole in nine (38%) of 24 patients, exudates resembling those in Coats' disease in two (8%) of 24 patients, visual field defects in all 24 patients (100%), and nondeductible electroretinograms in 21 (91%) of 23 patients. Linkage analysis carried out in the large family resulted in the assignment of a gene for retinitis pigmentosa with preserved para-arteriolar retinal pigment epithelium to chromosome 1q31-q32.1.
与色素性视网膜炎相关的视神经玻璃膜疣。
DOI：
10.1001/archopht.1985.01050020083027
发表时间：
1985
期刊：
Archives of ophthalmology (Chicago, Ill. : 1960)
影响因子：
--
作者：
Puck,A;Tso,MO;Fishman,GA
通讯作者：
Fishman,GA