Pojda-Wilczek Dorota, Wójcik Justyna, Kmak Bożena, Krawczyński Maciej Robert
Department of Ophthalmology, Faculty of Medical Sciences in Katowice, Medical University of Silesia in Katowice, 40-055 Katowice, Poland.
Kornel Gibiński University Clinical Centre, 40-514 Katowice, Poland.
Diagnostics (Basel). 2022 Nov 5;12(11):2701. doi: 10.3390/diagnostics12112701.
Leber hereditary optic neuropathy (LHON) is a rare disease with a prevalence of 1 in 25,000 births. LHON usually presents in young males, with painless loss of visual acuity in one or both eyes. Recently an autosomal recessive form of the disease (arLHON or LHONAR) has been described, which is caused by a biallelic mutation in the DNAJC30 gene (usually a missense mutation c.152A>G). The phenotypic and clinical characteristics of patients with arLHON are similar to those of mtLHON, but some differences have been described. Therapy is problematic and challenging. This paper describes clinical and electrophysiological findings in one family (three children and two parents) with arLHON and emphasizes the role of Photopic Negative Response Electroretinography, which provides objective measurement of retinal ganglion cells function. In Leber hereditary optic neuropathy, abnormal retinal ganglion cells function can be found in both eyes, even if visual acuity loss only occurs in one eye. Early clinical diagnosis, confirmed by genetic analysis, may be the key to sight-preserving treatment.
Leber遗传性视神经病变（LHON）是一种罕见疾病，在每25000例出生中约有1例患病。LHON通常发生在年轻男性身上，表现为单眼或双眼无痛性视力丧失。最近，已经描述了该疾病的常染色体隐性形式（arLHON或LHONAR），它由DNAJC30基因中的双等位基因突变（通常是错义突变c.152A>G）引起。arLHON患者的表型和临床特征与线粒体LHON（mtLHON）相似，但也有一些差异被描述。治疗存在问题且具有挑战性。本文描述了一个患有arLHON的家庭（三个孩子和两位父母）的临床和电生理检查结果，并强调了明视负反应视网膜电图的作用，它能客观测量视网膜神经节细胞的功能。在Leber遗传性视神经病变中，即使仅一只眼睛出现视力丧失，双眼的视网膜神经节细胞功能也可能异常。通过基因分析确诊的早期临床诊断可能是保留视力治疗的关键。
