LEBER HEREDITARY OPTIC NEUROPATHY. CLINICAL CHARACTERISTICS, DIAGNOSIS AND MANAGEMENT
Λέξεις-κλειδιά:
leber hereditary optic neuropathy, LHON, mitochondrial disease, optic atrophy, gene therapy, idebenone, adeno-associated virus vectorsΠερίληψη
Leber hereditary optic neuropathy (LHON) is a rare, maternally inherited mitochondrial disorder, which affects
the retinal ganglion cells. LHON usually presents in young males with progressive visual decline due
to optic neuropathy. Visual acuity decrease progresses to legal blindness in a large number of patients. The
diagnosis of LHON is based on history, visual acuity, perimetry, fluorescein angiography, optical coherence
tomography, electrophysiology, and on the molecular confirmation of a pathogenic mtDNA mutation.
Currently, the treatment of LHON includes genetic counseling, avoidance of certain environmental risk factors,
and medical treatment with idebenone for subacute and dynamic cases. Recently, gene therapy using
adeno-associated virus (AAV) vectors and mitochondrial replacement therapy are also showing promising
results. This review will address the pathophysiology, clinical presentation, diagnostic procedures and current
management of LHON.
