A Typical Case Presentation With Spontaneous Visual Recovery In Patient Diagnosed With Leber Hereditary Optic Neuropathy Due To Rare Point Mutation In Mt-nd4 Gene (m.11253t>c) And Literature Review
Liutkeviciene,R.;Sidaraite, A.; Kuliaviene, L.; Glebauskiene, B.; Jurkute, N.; Aluzaite-Baranauskiene, L.; Gelzinis, A.; Zemaitiene, R. A Typical Case Presentation with Spontaneous Visual Recovery in Patient Diagnosed with Leber Hereditary Optic Neuropathy due to Rare Point Mutation in MT-ND4 Gene (m.11253T>C) and Literature Review. Medicina 2021, 57, 202. https:// doi.org/10.3390/medicina57030202
View Original Source →Abstract
Leber hereditary optic neuropathy (LHON) is one of the most common inherited mitochondrial optic neuropathies, caused by mitochondrial DNA (mtDNA) mutations. Three most common mutations, namely m.11778G>A, m.14484T>G and m.3460G>A, account for the majority of LHON cases. These mutations lead to mitochondrial respiratory chain complex I damage. Typically, LHON presents at the 15–35 years of age with male predominance. LHON is associated with severe, subacute, painless bilateral vision loss and account for one of the most common causes of legal blindness in young individuals. Spontaneous visual acuity recovery is rare and has been reported in patients harbouring m.14484T>C mutation. Up to date LHON treatment is limited. Idebenone has been approved by European Medicines Agency (EMA) to treat LHON. However better understanding of disease mechanisms and ongoing treatment trials are promising and brings hope for patients. In this article we report on a patient diagnosed with LHON harbouring rare m.11253T>C mutation in MT-ND4 gene, who experienced spontaneous visual recovery. In addition, we summarise clinical presentation, diagnostic features, and treatment.
Case Details
Disease Location
Bilateral eyes
Personal Characteristics
21-year-old male, lithuanian. History of asthma, suspected cystic fibrosis, suspected epilepsy
Clinical Characteristics
Presented with sudden painless central vision loss in both eyes. At that time visual acuity (snellen chart, landolt c optotype) was 0.3 in both eyes. Ophthalmoscopy revealed bilateral optic nerve atrophy. A visual field test revealed bilateral central scotomas. Visual electrophysiology showed diminished latency in the right eye, with a prolonged latency in the left eye. Neurological examination and neuroimaging studies showed slender optic nerves and atrophy of chiasm without any signs of a neuroinflammatory process or compressive lesions. Based on the clinical presentation, ophthalmological investigations findings and whole mtdna sequencing results, the diagnosis of lhon caused by pathogenic variant m.11253t>c in mt-nd4 gene was established. 5 years after symptoms once treatment with idebenone was initiated with a daily dose of 300 mg 3 times a day. Five months later patient’s visual acuity kept improving with 0.8 (right eye) and 0.9 (left eye).
Remission Characteristics
Visual acuity remained stable until the patient was 25 years old (2018) when a sudden visual recovery was documented (a gain of 3 and 4 lines for the right and left eye, respectively) with no change in structural appearance.
Treatment & Mechanisms
Clinical Treatment
Idebenone (100mg/8h) (after remission)