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首页> 外文期刊>Ophthalmic genetics >Severe retinitis pigmentosa with posterior staphyloma in a family with c.886C > A p.(Lys296Glu) RHO mutation
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Severe retinitis pigmentosa with posterior staphyloma in a family with c.886C > A p.(Lys296Glu) RHO mutation

机译：具有C.886C的家庭中具有后型葡萄球菌的严重视网膜炎粒子，C.886C> P.（Lys296Glu）Rho突变

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摘要

Background: Posterior pole staphylomata (PSS) is an outward bulging of ocular wall, rarely reported in association with inherited retinal degenerations. Patients and methods: We report a large French family of Jewish ancestry with a peculiar form of dominant retinitis pigmentosa (RP) and posterior pole staphyloma (PPS). Eight members were clinically and genetically examined. Results: All affected members complained of night blindness from early childhood and their ERGs were extinguished in the first decade of life. Seven out of eight presented PPS on fundus examination and SD-OCT. The youngest patient did not present PPS at 11 months of age, but the signs of posterior pole bowing became evident at age 8 years. There was no association between the presence of PPS and refraction. Patients with PPS were either hyperopic or myopic, but all have a high with-the-rule astigmatism. A myopic shift was observed for all of them at follow-up. In this family, the disease segregated with the c.886A>G mutation in RHO gene. Conclusion: A PPS development was observed in initially non-myopic patients of a family with unusually severe dominant RP. The PPS concerned only the area with relatively preserved outer retinal layers (outer nuclear layer and ellipsoid zone). How the outer retina could guide choroid and scleral remodelling remains unclear.
机译：背景：后极葡萄状瘤（PSS）是眼壁的向外凸出，很少与遗传性视网膜退化相关联。患者和方法：我们报告了一家大型法国犹太人家族，具有奇特形式的占优势视网膜炎（RP）和后极葡萄球菌（PPS）。临床和遗传检查八名成员。结果：所有受影响成员抱怨童年早期的夜盲症及其ERG在生命的第一个十年中熄灭。八分之八的眼底考试和SD-OCT提出了PPS。最小的患者在11个月的年龄不存在PPS，但在8年内，后极弯曲的迹象变得明显。 PPS和折射的存在之间没有关联。 PPS的患者是超近似或近视，但所有人都有高度的 - 规则的散光。在随访中观察到近视偏移。在这个家庭中，用rho基因的C.886A> G突变分离。结论：在初始非近视患者中观察到PPS开发，具有异常严重的占优势RP。 PPS仅关心具有相对保存的外视网膜层（外核层和椭圆形）的区域。外视网膜如何引导脉络膜和巩膜重塑仍然不清楚。

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