Comment on: 'Sector retinitis pigmentosa caused by mutations of the RHO gene'
Comment on: 'Sector retinitis pigmentosa caused by mutations of the RHO gene'
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评论：“RHO 基因突变引起的扇区色素性视网膜炎”
作者：
Orlans H
在他们最近的文章中，肖等人。报道5例由视紫红质(Rho)基因三个不同的错义突变所致的中国无关先证者的视紫红质(Rho)区段视网膜色素变性(RP)[1]。其中两个致病突变(p.T17M和p.G106A)已被描述，而第三个(p.L31Q)是新的。识别扇形RP的病例很重要，因为这种表型对患者的治疗有潜在的影响，我们希望强调这一点。典型地，下视网膜在扇形RP中受到的影响更严重。这表明入射光具有加重疾病的作用，视网膜下方区域暴露得更强烈。事实上，在视紫红质相关的RP动物模型中，已经发现完全限光可以降低视网膜外部变性的严重程度[2]，这些视网膜似乎也显示出大大降低了光诱导损伤的阈值[2，3]。此外，据报道，由于职业暴露在高强度的光线下，携带某些视紫红质错义突变(EGP P180A)的患者会加剧疾病[4]。我们最近研究了使用红色滤光片过滤短波长光对视紫红质P.P23H敲入小鼠RP扇区模型疾病进展的影响[5]。我们假设，减少杆状感光器暴露在它们对光最敏感的频率下，可能会达到治疗效果，同时仍然允许有用的视力。我们观察到了一个重要的
In their recent article, Xiao et al. report five cases of sector retinitis pigmentosa (RP) owing to three distinct missense mutations in the rhodopsin (RHO) gene in unrelated Chinese probands [1]. Two of these pathogenic mutations (p. T17M and p. G106A) have been described previously whilst the third (p. L31Q) is novel. Recognition of cases of sector RP is important as this phenotype has potential implications for patient management which we wish to highlight.Typically, the inferior retina is more severely affected in sector RP. This suggests a disease-exacerbating role for incident light to which inferior regions of the retina are more intensely exposed. Indeed, complete light restriction has been found to reduce the severity of outer retinal degeneration in animal models of rhodopsin-related RP [2], and these retinas also appear to display a greatly reduced threshold for light-induced damage [2, 3]. Further, exacerbation of disease has been reported in patients harbouring certain rhodopsin missense mutations (egp P180A) as a result of occupational exposure to high intensities of light [4]. We recently investigated the effect of filtration of short-wavelength light using red optical filters on disease progression in the rhodopsin p. P23H knock-in mouse model of sector RP [5]. We hypothesised that reducing exposure of rod photoreceptors to frequencies of light to which they are maximally sensitive might achieve a treatment effect whilst still allowing for useful vision. We observed a significant