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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
- Source :
- Medicina, Vol 57, Iss 202, p 202 (2021), Medicina
- Publication Year :
- 2021
- Publisher :
- MDPI AG, 2021.
-
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.
- Subjects :
- Medicine (General)
congenital, hereditary, and neonatal diseases and abnormalities
Pediatrics
medicine.medical_specialty
Mitochondrial DNA
Visual acuity
genetic structures
aetiology
diagnosis
Case Report
LHON
R5-920
Medicine
Idebenone
Mitochondrial respiratory chain complex I
treatment
business.industry
Point mutation
nutritional and metabolic diseases
General Medicine
medicine.disease
eye diseases
Etiology
medicine.symptom
Mitochondrial optic neuropathies
Leber hereditary optic neuropathy
business
MT-ND4
medicine.drug
Subjects
Details
- ISSN :
- 16489144
- Volume :
- 57
- Database :
- OpenAIRE
- Journal :
- Medicina
- Accession number :
- edsair.doi.dedup.....f4a5471a40d17d5a9911023fc0ccf654
- Full Text :
- https://doi.org/10.3390/medicina57030202