Longitudinal Study of Optic Disk Perfusion and Retinal Structure in Leber's Hereditary Optic Neuropathy.
Calzetti Giacomo, La Morgia Chiara, Cattaneo Marco, Carta Arturo, Bosello Francesca, Amore Giulia, Carbonelli Michele, Cascavilla Maria Lucia, Gandolfi Stefano, Carelli Valerio
AI Summary
This study found early LHON involves increased optic disk blood flow before structural nerve loss, then perfusion drops. This suggests optic disk perfusion is a promising biomarker for LHON diagnosis and monitoring.
Abstract
Purpose
The purpose of this study was to evaluate optic disk perfusion and neural retinal structure in patients with subacute Leber's hereditary optic neuropathy (LHON) and LHON carriers, as compared with healthy controls.
Methods
This study included 8 patients with LHON in the subacute stage, 10 asymptomatic carriers of a LHON-associated mitochondrial DNA mutation, and 40 controls. All subjects underwent measurement of the retinal nerve fiber layer (RNFL) thickness, the ganglion cell-inner plexiform layer (GCIPL) thickness using optical coherence tomography and optic disk microvascular perfusion (Mean Tissue [MT]) using laser speckle flowgraphy (LSFG). Patients were re-examined after a median interval of 3 months from the baseline visit.
Results
LHON carriers had higher values of RNFL thickness, GCIPL thickness, and disk area than controls (P < 0.05), whereas MT was not different between the two groups (P = 0.936). Median MT and RNFL thickness were 32% and 15% higher in the early subacute stage of the disease than in controls (P < 0.001 and P = 0.001). MT declined below the values of controls during the late subacute stage (P = 0.024), whereas RNFL thickness declined later during the dynamic stage (P < 0.001). GCIPL thickness was lower in patients with LHON than in controls independently of the stage of the disease (P < 0.001).
Conclusions
The high blood flow at the optic disk during the early subacute stage may be the consequence of vasodilation due to nitric oxide release as compensation to mitochondrial impairment. Optic disk perfusion as measured by LSFG is a promising biomarker for LHON diagnosis and monitoring as well as an objective outcome measure for assessing response to therapies.
MeSH Terms
Shields Classification
Key Concepts6
Leber's hereditary optic neuropathy (LHON) carriers had higher values of retinal nerve fiber layer (RNFL) thickness, ganglion cell-inner plexiform layer (GCIPL) thickness, and disk area than controls (P < 0.05) in a longitudinal study of 8 patients with LHON, 10 asymptomatic carriers, and 40 controls.
Optic disk microvascular perfusion (Mean Tissue [MT]) was not different between Leber's hereditary optic neuropathy (LHON) carriers and controls (P = 0.936) in a longitudinal study of 8 patients with LHON, 10 asymptomatic carriers, and 40 controls.
Median optic disk microvascular perfusion (Mean Tissue [MT]) and retinal nerve fiber layer (RNFL) thickness were 32% and 15% higher, respectively, in the early subacute stage of Leber's hereditary optic neuropathy (LHON) than in controls (P < 0.001 and P = 0.001) in a longitudinal study of 8 patients with LHON, 10 asymptomatic carriers, and 40 controls.
Optic disk microvascular perfusion (Mean Tissue [MT]) declined below the values of controls during the late subacute stage of Leber's hereditary optic neuropathy (LHON) (P = 0.024), whereas retinal nerve fiber layer (RNFL) thickness declined later during the dynamic stage (P < 0.001) in a longitudinal study of 8 patients with LHON, 10 asymptomatic carriers, and 40 controls.
Ganglion cell-inner plexiform layer (GCIPL) thickness was lower in patients with Leber's hereditary optic neuropathy (LHON) than in controls independently of the stage of the disease (P < 0.001) in a longitudinal study of 8 patients with LHON, 10 asymptomatic carriers, and 40 controls.
Optic disk perfusion as measured by laser speckle flowgraphy (LSFG) is a promising biomarker for Leber's hereditary optic neuropathy (LHON) diagnosis and monitoring as well as an objective outcome measure for assessing response to therapies, based on findings from a longitudinal study of 8 patients with LHON, 10 asymptomatic carriers, and 40 controls.
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