Leber's hereditary optic neuropathy with complete visual recovery - the first report

Abstract

Introduction. Leber’s hereditary optic neuropathy (LHON) typically affects young adults, with a higher prevalence in men, but can ultimately occur at any age, as well as in women. LHON is caused by point mutations in the mitochondrial DNA. Classically, LHON presents as a subacute unilateral loss of visual acuity, dyschromatopsia in the red–green axis and a central or centrocecal scotoma. The contralateral eye usually develops similar symptoms within 3–6 months of the disease onset. Case outline. A 55-year-old male patient presented to a neurologist 20 days after the onset of vision loss. The patient was admitted as an emergency case to the Clinic for Eye Diseases due to a sudden vision loss in both eyes. The best corrected visual acuity in both eyes was 4/60. The intraocular pressure on both eyes was normal. Oedema of the optic nerve head was found on the right eye and a disc with blurred borders was seen on the left eye. During hospitalization, several consultative examinations and diagnostic procedures were performed, together with blood laboratory and visual field perimetry. Genetic testing for LHON as well as antibodies to AQ4, immunoserology, virology, and lumbar puncture were performed, as well as the visual evoked potential and ultrasound examinations. Conclusion. In our patient, the presence of a heteroplasmic mutation m.11778 G>A (MT-ND4) in the mitochondrial DNA analyzed from a peripheral blood sample was shown. In the available literature, this is the first documented LHON case demonstrating complete restitution of visual acuity in both eyes.

Keywords

• leber's hereditary optic neuropathy
• sudden loss of vision
• mitochondrial dna mutation