Photoreceptor Manifestations of Primary Mitochondrial Optic Nerve Disorders.
Photoreceptor Manifestations of Primary Mitochondrial Optic Nerve Disorders.
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DOI：
10.1167/iovs.63.5.5
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发表时间：
2022-05-02
影响因子：
4.4
通讯作者：
中科院分区：
文献类型：
--
作者：
比较3种原发性线粒体功能障碍的遗传性视神经病的光感受器（PRs）表现，探讨视网膜神经节细胞（RGCs）和PRs是否优先受累。对经遗传学确诊的线粒体功能障碍相关视神经病变患者进行回顾性分析。该队列包括Leber遗传性视神经病变（LHON）、常染色体显性视神经萎缩1型（OPA 1）和视神经萎缩13型（OPA 13）。患者病历评估包括临床特征、最佳矫正视力（BCVA）、眼底照相、光谱域光学相干断层扫描（SD-OCT）、视网膜电图（ERG）和视觉诱发电位数据。该分析包括来自三级医疗中心的7名LHON患者，6名OPA 1患者和1名OPA 13患者。14人中有13人是男性。诊断时右眼和左眼的平均BCVA分别为20/285和20/500。7例LHON患者中的5例和6例OPA 1患者中的3例也显示出光适应ERG和30 Hz闪烁反应的轻度振幅降低或延迟潜伏期;然而，SD-OCT成像未显示相关的PR异常。值得注意的是，OPA 13患者的7年随访显示在PR变性之前RGC变性。随访数据还表明SD-OCT成像上锥体外段尖端连续丢失。RGC通常受线粒体功能障碍的影响，而可变PR功能障碍存在于LHON和OPA 1患者中，特别是在视锥细胞反应方面。PR的参与在RGC退化后的OPA 13中特别明显。
To compare the manifestations of photoreceptors (PRs) in three hereditary optic neuropathies affected by primary mitochondrial dysfunction and discuss whether the retinal ganglion cells (RGCs) or the PRs are preferentially affected. A retrospective analysis of patients with genetically confirmed diagnoses of optic neuropathies associated with mitochondrial dysfunction was performed. This cohort included Leber's hereditary optic neuropathy (LHON), autosomal dominant optic atrophy type 1 (OPA1), and optic atrophy type 13 (OPA13). Patient chart evaluations included clinical characteristics, best-corrected visual acuity (BCVA), fundus photography, spectral-domain optical coherence tomography (SD-OCT), electroretinogram (ERG), and visual evoked potential data. This analysis included seven patients with LHON, six with OPA1, and one with OPA13 from a tertiary medical center. Thirteen of the 14 individuals were male. The average BCVA at diagnosis was 20/285 and 20/500 in the right and left eyes, respectively. Five of the seven patients with LHON, and three of the six patients with OPA1 also showed a mild amplitude reduction or delayed latency on light-adapted ERG and 30-Hz flicker responses; however, SD-OCT imaging did not show correlated PR abnormalities. Notably, a 7-year follow-up of a patient with OPA13 revealed degeneration of RGCs prior to the degeneration of PRs. Follow-up data also demonstrated continuous loss of cone outer segment tips on SD-OCT imaging. RGCs are, in general, affected by mitochondrial dysfunction, whereas variable PR dysfunction exists in patients with LHON and OPA1, especially with respect to the cone responses. Involvement of PRs is particularly evident in OPA13 after RGC degenerations.
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影响因子：
4.4
作者：
Heiduschka, Peter;Schnichels, Sven;Alavi, Marcel V.
通讯作者：
Alavi, Marcel V.
影响因子：
3.4
作者：
Cascavilla, Maria Lucia;Parisi, Vincenzo;Barboni, Piero
通讯作者：
Barboni, Piero
影响因子：
1.2
作者：
Granse, Lotta;Bergstrand, Ingar;Andreasson, Sten
通讯作者：
Andreasson, Sten
DOI：
10.1146/annurev-genom-082509-141720
发表时间：
2010
影响因子：
8.7
作者：
Calvo SE;Mootha VK
通讯作者：
Mootha VK
影响因子：
4.4
作者：
Ito, Yoko A.;Di Polo, Adriana
通讯作者：
Di Polo, Adriana