The Relative Preservation of the Central Retinal Layers in Leber Hereditary Optic Neuropathy

• Published in: Journal of clinical medicine Vol. 11; no. 20; p. 6045
• Main Authors: Petrovic Pajic, Sanja, Lapajne, Luka, Vratanar, Bor, Fakin, Ana, Jarc-Vidmar, Martina, Sustar Habjan, Maja, Volk, Marija, Maver, Ales, Peterlin, Borut, Hawlina, Marko
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 13.10.2022; MDPI
• Subjects: Atrophy; Clinical medicine; Disease; Genetic testing; Genotype & phenotype; Ischemia; Males; Mitochondrial DNA; Optics; Patients; Software; Tomography; Slovenia; Leber hereditary optic neuropathy; retinal layer segmentation; ganglion cell complex; peripapillary RNFL; optical coherence tomography
• ISSN: 2077-0383; 2077-0383
• DOI: 10.3390/jcm11206045

(1) Background: The purpose of this study was to evaluate the thickness of retinal layers in Leber hereditary optic neuropathy (LHON) in the atrophic stage compared with presumably inherited bilateral optic neuropathy of unknown cause with the aim of seeing if any LHON-specific patterns exist. (2) Methods: 14 patients (24 eyes) with genetically confirmed LHON (LHON group) were compared with 13 patients (23 eyes) with negative genetic testing results (mtDNA + WES) and without identified etiology of bilateral optic atrophy (nonLHON group). Segmentation analysis of retinal layers in the macula and peripapillary RNFL (pRNFL) measurements was performed using Heidelberg Engineering Spectralis SD-OCT. (3) Results: In the LHON group, the thickness of ganglion cell complex (GCC) (retinal nerve fiber layer (RNFL)—ganglion cell layer (GCL)—inner plexiform layer (IPL)) in the central ETDRS (Early Treatment Diabetic Retinopathy Study) circle was significantly higher than in the nonLHON group (p < 0.001). In all other ETDRS fields, GCC was thinner in the LHON group. The peripapillary RNFL (pRNFL) was significantly thinner in the LHON group in the temporal superior region (p = 0.001). Longitudinal analysis of our cohort during the follow-up time showed a tendency of thickening of the RNFL, GCL, and IPL in the LHON group in the central circle, as well as a small recovery of the pRNFL in the temporal region, which corresponds to the observed central macular thickening. (4) Conclusions: In LHON, the retinal ganglion cell complex thickness (RNFL-GCL-IPL) appears to be relatively preserved in the central ETDRS circle compared to nonLHON optic neuropathies in the chronic phase. Our findings may represent novel biomarkers as well as a structural basis for possible recovery in some patients with LHON.