Peripapillary microcirculation in Leber hereditary optic neuropathy

Area of Science:

• Ophthalmology
• Neuroscience
• Genetics

Background:

• Leber hereditary optic neuropathy (LHON) is a mitochondrial disorder causing vision loss.
• The peripapillary capillary network's role in LHON pathogenesis is not fully understood.

Purpose of the Study:

• To investigate the peripapillary capillary network in LHON using spectral-domain optical coherence tomography angiography (OCT-A).

Main Methods:

• Prospective observational study of 12 eyes from 6 individuals with LHON.
• OCT-A imaging centered on optic discs.
• Comparison with 6 control eyes without visual impairment.

Main Results:

• Affected eyes showed altered radial peripapillary microvascular network density at the retinal nerve fiber layer.
• One patient treated with idebenone showed near-complete vision recovery.
• Differences in the ganglion cell layer were noted in severely affected individuals.
• No differences were observed between unaffected carriers and controls.

Conclusions:

• OCT-A confirmed peripapillary microvascular network abnormalities in LHON-related vision impairment.
• Microangiopathy is implicated in the vision loss associated with LHON.