Abstract
Purpose :
We investigated the macular intra-retinal layers thicknesses and foveal pit morphology measured by optical coherence tomography (OCT) in a family leber’s hereditary optic neuropathy (LHON) carrying the G11778A mutation.
Methods :
This study was a prospect cross-section study. Both eyes from sixteen family members (ages from 9 to 47 years) with the G11778A mutation were analyzed and compared with one eye from 20 normal control subjects. Eleven family members with the G11778A mutation but without optic neuropathy were classified as unaffected carriers (n=22 eyes). Five family members (n=10 eyes) expressed the LHON phenotype and were classified as affected patients. Retinal images of all the subjects were taken by OCT, and an automatic algorithm was used to segment the retina to eight layers. Horizontal and vertical OCT images centered on the fovea were used to measure intra-retinal layer thicknesses and foveal morphometry.
Results :
Compared with the control group, affected LHON patients had a thinner retinal nerve fiber layer (RNFL), ganglion cell layer inner plexiform layer (GCL+IPL), and total retina (all P<0.01). The RNFL of affected patients was 38.0% thinner than controls while the GCL+IPL was 40.1% thinner. The thicker foveal thickness, thinner foveal pit depth and flatter foveal slopes were observed in unaffected carriers and affected LHON patients (all P<0.05).
Conclusions :
The foveal pit morphology was changed in both unaffected carriers and affected patients. Intra-retinal structural thinning of affected LHON patients mainly occurred in the RNFL and GCL+IPL layers.
This is an abstract that was submitted for the 2018 ARVO Annual Meeting, held in Honolulu, Hawaii, April 29 - May 3, 2018.