Jarc-Vidmar Martina, Tajnik Mojca, Brecelj Jelka, Fakin Ana, Sustar Maja, Naji Mateja, Stirn-Kranjc Branka, Glavač Damjan, Hawlina Marko
Eye Hospital, University Medical Centre, Grablovičeva 46, 1000, Ljubljana, Slovenia,
Doc Ophthalmol. 2015 Jun;130(3):179-87. doi: 10.1007/s10633-015-9489-7. Epub 2015 Feb 19.
To report clinical and electrophysiology findings in Slovene patients with Leber hereditary optic neuropathy (LHON).
Eight patients with LHON (11-26 years; one female and seven males) were examined in acute stages and at follow-up visits by means of Snellen visual acuity, Ishihara color vision, Goldmann or Octopus G2TOP perimetry, fluorescein angiography (FAG), pattern electroretinogram (PERG), visual evoked potentials (VEP) and genetic testing.
Patients presented with typical LHON phenotype with bilateral visual acuity loss, abnormal color vision, central scotoma and hyperemic discs with no leakage on FAG. In the acute stage, electrophysiology was performed in 7/8 patients. The PERG P50 component was normal in 14/14 eyes, while the N95 component was reduced in 7/14 eyes. VEP wave P100 was reduced and delayed in 14/14 eyes. In this stage, temporal pallor of the optic disc was visible in 4/7 eyes with reduced PERG N95. At follow-up (1-11 months after), a reduced PERG N95 component was seen in 13/14 eyes and severely affected VEP in all eyes. In the only eye with a normal PERG N95, hyperemic optic disc was seen 5 months after visual acuity loss, while it was atrophic in all the others. Known mutations (14484T>C, 3460G>A) were found in 2/8 patients, while in others high-throughput sequencing identified new potentially pathogenic mutations.
In Leber hereditary optic neuropathy, a reduced N95 component of PERG and severely reduced VEP P100 may be present already in the acute stage of disease, before optic disc pallor appears, suggesting primary dysfunction of retinal ganglion cells.
报告斯洛文尼亚Leber遗传性视神经病变（LHON）患者的临床和电生理检查结果。
对8例LHON患者（年龄11 - 26岁；1例女性，7例男性）在急性期及随访时进行了Snellen视力、石原色盲检查、Goldmann或Octopus G2TOP视野检查、荧光素血管造影（FAG）、图形视网膜电图（PERG）、视觉诱发电位（VEP）及基因检测。
患者表现出典型的LHON表型，包括双侧视力丧失、色觉异常、中心暗点以及视盘充血且FAG无渗漏。急性期，8例患者中的7例进行了电生理检查。14只眼中14只眼的PERG P50成分正常，而14只眼中7只眼的N95成分降低。14只眼中14只眼的VEP波P100降低且延迟。在此阶段，PERG N95降低的7只眼中4只眼可见视盘颞侧苍白。随访时（1 - 11个月后），14只眼中13只眼的PERG N95成分降低，所有眼的VEP均严重受损。在唯一一只PERG N95正常的眼中，视力丧失5个月后可见视盘充血，而其他眼中视盘均萎缩。2/8例患者发现已知突变（14484T>C，3460G>A），其他患者通过高通量测序鉴定出了新的潜在致病突变。
在Leber遗传性视神经病变中，疾病急性期在视盘苍白出现之前，PERG的N95成分降低及VEP P100严重降低可能就已存在，提示视网膜神经节细胞存在原发性功能障碍。
