Dominant (Kjer’s) optic atrophy associated with mutations in OPA1 gene

Czech version

Authors: S. Kelifová ¹; T. Honzík ¹; M. Tesařová ¹; B. Kousal ²; P. Lišková ^1,2; P. Havránková ³; H. Kolářová ¹
Authors‘ workplace: Klinika dětského a dorostového lékařství 1. LF UK a VFN v Praze ¹; Oční klinika 1. LF UK a VFN v Praze ²; Neurologická klinika 1. LF UK a VFN v Praze ³
Published in: Cesk Slov Neurol N 2020; 83(1): 33-42
Category: Review Article
doi: https://doi.org/10.14735/amcsnn202033

Overview

Dominant optic atrophy (DOA) is an autosomal dominant disorder manifesting by slowly progressive painless bilateral visual acuity loss with variable degree of severity. DOA is caused by mutations in nuclear DNA encoding proteins associated with the inner mitochondrial membrane. Most individuals with DOA harbour a disease-causing mutation in the OPA1 gene; however, other genes and loci associated with DOA have also been identified. First symptoms usually manifest in the first two decades of life. The disease mechanism lies in neurodegenerative damage of retinal ganglion cells leading to optic nerve atrophy. Decrease of visual acuity is associated with colour vision alterations and central or paracentral visual field defects. On fundoscopic examination, optic head nerve pallor can be noticed, occasionally with excavation. Extraocular symptoms are present in some patients, causing so-called DOA plus syndrome. Bilateral sensorineural hearing loss, is the most common one; chronic progressive external ophthalmoplegia, myopathy, peripheral neuropathy, multiple sclerosis-like disorder, and spastic paraplegia of lower limbs are rare. Currently, there is no effective treatment available that would prevent the development of visual impairment. Genetic diagnostics and follow-up of patients with DOA are held in the Centre for Patients with Mitochondrial Optic Neuropathies, General University Hospital in Prague. The aim of this review is to increase awareness of the most common genetically determined optic neuropathy.

Keywords:

dominant optic atrophy – Leber‘s hereditary optic neuropathy – optic neuropathy/atrophy – Mitochondrial diseases

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