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


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: 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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Paediatric neurology Neurosurgery Neurology

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Czech and Slovak Neurology and Neurosurgery

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2020 Issue 1

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