LEBER HEREDITARY OPTIC NEUROPATHY: A CASE REPORT OF CONCURRENT RARE MITOCHONDRIAL MUTATIONS AND ABCA4 NUCLEAR GENE...

Area of Science:

• Ophthalmology
• Genetics
• Neuroscience

Background:

• Leber hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disease causing acute or subacute vision loss.
• The condition typically results from specific point mutations in mitochondrial DNA (mtDNA).
• Genetic heterogeneity and complex inheritance patterns can influence LHON presentation.

Purpose of the Study:

• To describe the clinical presentation of a 21-year-old male with subacute bilateral painless vision loss.
• To investigate the genetic basis of Leber hereditary optic neuropathy (LHON) in this patient.
• To explore potential novel genetic mutations associated with LHON.

Main Methods:

• Clinical examination and detailed medical history of the patient.
• Comprehensive genetic testing, including analysis for known LHON mutations.
• Identification and characterization of mitochondrial DNA (mtDNA) and nuclear DNA variants.

Main Results:

• The patient presented with subacute, bilateral, painless vision loss consistent with LHON.
• Standard LHON genetic testing was negative for the three most common mutations.
• Two homoplasmic mitochondrial mutations (m3461 C>T and m9358 C>T) and two pathogenic ABCA4 variants were identified.

Conclusions:

• This case highlights that LHON can occur in the absence of common mtDNA mutations.
• The identified mitochondrial and nuclear variants may contribute to the patient's LHON phenotype.
• Genetic interactions and environmental factors may play a role in LHON pathogenesis.