Gradual vision loss in a patient diagnosed with leber hereditary optic neuropathy due MT-ND6 point mutation (m.14484T>C)
| Author | Affiliation |
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| Other(s) | |||
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Tyrimo grupės vadovas / Research group head | |||
Tyrimo grupės vadovas / Research group head | |||
Tyrimo grupės vadovas / Research group head |
| Date |
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2021-03-22 |
Case reports, small case series. Internal medicine
ISBN 978-9934-8927-5-2.
Authors are responsible for their Abstracts.
Introduction. We present a case report of a 49-year-old man diagnosed with Leber hereditary optic neuropathy(LHON) harbouring m.14484T>C mutation in the MT-ND6 gene, who experienced gradual vision loss. Case Description. A 49-year-old male patient experienced gradual painless vision loss in both eyes. From the medical history, we found that the onset of symptoms was about one year before the diagnosis was confirmed. During the first visit, best corrected visual acuity (Snellen chart, Landolt C optotype) in the right eye was 0.2, in the left eye 0.2. After 1month best corrected visual acuity in both eyes was reduced to 0.05. Both eyes showed central scotomas on full field visual testing. On slit-lamp examination, the findings of the anterior pole were within normal limits. Color vision and intraocular pressure were normal during both examinations. Dilated fundus examination showed optic nerve disk (OND) in pink color, the borders of OND were clear and well defined, elevated in the inferior parts, resembling drusen, narrow blood vessels. Optic coherence tomography (OCT) of retinal nerve fiber layer revealed temporal quadrants atrophic signs in both eyes. OCT of the macula was normal. Magnetic resonance brain imaging showed no signs of neuroinflammatory process or compressive lesions. As LHON was suspected, whole mitochondrial genome sequencing was initiated. Summary. LHON is a mitochondrial disorder characterized by gradual, painless, severe visual loss in one eye, followed weeks to years later by the same process in the other eye that usually affects young adults with a higher prevalence in men. Three primary mtDNA point mutations comprise over 90% of cases: 11778(69%), 3460(13%), and 14484(14%). Conclusion. Results of the performed mtDNA analysis confirmed the diagnosis of LHON. Patient was identified to carry homoplasmic pathogenic variant m.14484T>C in MT-ND6 gene. The patient’s offspring risk for inheriting[...]