G?"/>

亚洲免费av电影一区二区三区,日韩爱爱视频,51精品视频一区二区三区,91视频爱爱,日韩欧美在线播放视频,中文字幕少妇AV,亚洲电影中文字幕,久久久久亚洲av成人网址,久久综合视频网站,国产在线不卡免费播放

        ?

        Are foveal thickness, pit depth, and slopes truly abnormal in unaffected carriers of the LHON variant m.11778G>G?

        2021-03-25 11:10:59JosefFinsterer

        Josef Finsterer

        Klinik Landstrasse, Messerli Institute, Vienna 1180, Austria

        Dear Editor,

        We read with interest the article by Liuet al[1]about an optical coherence tomography (OCT) study of five patients (10 eyes) with Leber’s hereditary optic neuropathy(LHON) due to the variant m.11778G>A inMT-ND4which were compared with 11 clinically unaffected carriers (22 eyes) of the variant and with 20 healthy controls. Thicker foveal thickness,thinner foveal pit depth, and flatter foveal slopes were found in LHON patients and unaffected carriers compared to controls[1].We have the following comments and concerns.

        Missing in this study are the heteroplasmy rates of the m.11778G>A variant[1]. Though most of the primary LHON mutations are found in a homoplasmic state, there are exceptions and even the m.11778G>A variant occurs in the heteroplasmic state and is nonetheless pathogenic[2]. Thus, knowing heteroplasmy rates is crucial as they may strongly influence the OCT results.We should know how the authors excluded that any of the 20 control subjects was indeed an asymptomatic m.11778G>A carrier. We should know if the 20 healthy subjects had undergone genetic testing to exclude the presence of an asymptomatic m.11778G>A variant. We also should know the haplogroup of the investigated family since the haplotype may strongly determine the phenotypic expression of primary LHON mutations[3].

        Missing in the study is the information about who of the affected or unaffected carriers was a smoker. Since smoking is regarded as a putative trigger of LHON in asymptomatic carriers, it is worthwhile to know how many of the included m.11778G>A carriers were smoking or not.

        A further limitation of the study is that it was not mentioned how many of the 5 LHON patients received antioxidants,in particular idebenone (900 mg/d). The latter is the only approved drug for LHON and may exhibit a significant effect in some of the LHON patients[4]. Since idebenone may strongly influence the test results, it is worthwhile to know how many of the 5 LHON patients received the drug or other antioxidants known to exhibit a beneficial effect.

        Since some patients carrying the m.11778G>A variant may recover spontaneously[5], it should be mentioned how many of the 5 LHON patients reported spontaneous remission or improvement over time. Spontaneous recovery may also strongly influence the study results. In all four sectors total retinal and RNFL thickness were, though not statistically significant, larger in unaffected carriers compared to controls.This finding contradicts thicker foveal thickness, thinner foveal pit depth, and flatter foveal slopes in unaffected carriers compared to controls. This discrepancy requires an explanation.

        Overall, the presented study has a number of limitations,which need to be solved before final conclusions can be drawn. Considering factors influencing the expressivity of the m.11778G>A variant is crucial for interpretation of the study results. Whether allegedly asymptomatic carriers of the variant m.11778G>Α are subclinically affected remains unproven.

        ACKNOWLEDGEMENTS

        Conflicts of Interest: Finsterer J,None.

        亚洲一本之道高清在线观看| 女人色毛片女人色毛片18| 美日韩毛片| 蜜桃伦理一区二区三区| 国内自拍偷国视频系列| 国产乱子伦| 黄 色 人 成 网 站 免 费| 人妻被黑人粗大的猛烈进出 | 亚洲综合欧美在线一区在线播放| 亚洲av日韩精品久久久久久| 中文字幕在线观看乱码一区| 国产精品国产三级国产专区不| 欧美xxxx做受欧美| 亚洲熟妇无码av不卡在线播放 | 亚洲乱码中文字幕综合| 极品av一区二区三区| 人人妻人人爽人人澡欧美一区| 97欧美在线| 国产99视频一区二区三区 | 久久ri精品高清一区二区三区| 日本精品久久性大片日本| 人妻夜夜爽天天爽三区麻豆av| 综合色区亚洲熟妇另类| 99久久夜色精品国产网站| 成人午夜视频在线观看高清| 美女用丝袜脚玩我下面| 少妇太爽了在线观看免费视频| 欧美韩日亚洲影视在线视频| 最新日本免费一区二区三区| 中文字幕一区二区三区四区五区 | 欧美自拍视频在线| 日韩精品夜色二区91久久久| 久久精品国产91精品亚洲| 国产一区二区精品久久| 亚洲中文字幕乱码免费| 在线国产丝袜自拍观看| 日韩精品久久无码中文字幕| 日韩www视频| 国产网红一区二区三区| 揄拍成人国产精品视频| 国产在线精品一区二区三区不卡|