Samuel Asanad1,2, Jack J Tian1,2, Starleen Frousiakis1, Jerry P Jiang2, Kaitlin Kogachi1, Christian M Felix2, Darvizeh Fatemeh1,3, Anne Gority Irvine1, Anna Ter-Zakarian1, Khalil Ghasemi Falavarjani1,4, Piero Barboni3,5, Rustum Karanjia1,6,7, Alfredo A Sadun1,2. 1. a Department of Ophthalmology , Doheny Eye Center , Los Angeles , CA , USA. 2. b Department of Ophthalmology, David Geffen School of Medicine , University of California Los Angeles , Los Angeles , CA , USA. 3. c Dipartimento di Scienze Neurologiche , Università di Bologna , Bologna , Italy. 4. g Department of Ophthalmology , Eye Research Center,Rassoul Akram Hospital, Iran University of Medical Sciences , Tehran , Iran. 5. d Department of Ophthalmology , Studio Oculistico d'Azeglio , Bologna , Italy. 6. e Ottawa Eye Institute , University of Ottawa , Ottawa , Ontario , Canada. 7. f Department of Ophthalmology , Ottawa Hospital Research Institute , Ottawa , Ontario , Canada.
Abstract
Background: Mitochondrial optic neuropathies such as Leber's Hereditary Optic Neuropathy (LHON) and Dominant Optic Atrophy (DOA) have been shown to produce an optic neuropathy secondary to retinal ganglion cell loss with thinning of the retinal ganglion cell complex (RGCC). Methods: We performed a retrospective analysis assessing the thicknesses of the peripapillary retinal nerve fiber layer (pRNFL) along with the macular retinal ganglion cell-inner plexiform layer (RGC-IPL) using optical coherence tomography (OCT). We compared these changes among acute and chronic LHON, DOA, and normal healthy control patients. Results: Patients with chronic LHON exhibited statistically significant thinning of the RNFL in the superior, nasal, and inferior quadrants of the retina. In acute LHON, the RNFL was relatively thicker in all but the temporal quadrant when compared with respective quadrants in normal eyes; however, statistical significance was not achieved. In DOA, the RNFL was thinnest in the superior and inferior quadrants of the retina, measuring between acute and chronic LHON thickness values. In chronic LHON and DOA, both the pRNFL and RGC-IPL were significantly thinner in all four retinal quadrants relative to controls. Conclusions: This article represents the first comparative study of the RGCC between LHON and DOA. Our findings demonstrated significant thickness reductions in pRNFL and macular RGC-IPL in patients with LHON and DOA, with different specific patterns consistent with the general patterns of thinning classically observed. This study suggests the usefulness of the RGCC as a potential in vivo biomarker for assessing disease in patients with LHON and DOA.
Background: Mitochondrial optic neuropathies such as Leber's Hereditary Optic Neuropathy (LHON) and Dominant Optic Atrophy (DOA) have been shown to produce an optic neuropathy secondary to retinal ganglion cell loss with thinning of the retinal ganglion cell complex (RGCC). Methods: We performed a retrospective analysis assessing the thicknesses of the peripapillary retinal nerve fiber layer (pRNFL) along with the macular retinal ganglion cell-inner plexiform layer (RGC-IPL) using optical coherence tomography (OCT). We compared these changes among acute and chronic LHON, DOA, and normal healthy control patients. Results:Patients with chronic LHON exhibited statistically significant thinning of the RNFL in the superior, nasal, and inferior quadrants of the retina. In acute LHON, the RNFL was relatively thicker in all but the temporal quadrant when compared with respective quadrants in normal eyes; however, statistical significance was not achieved. In DOA, the RNFL was thinnest in the superior and inferior quadrants of the retina, measuring between acute and chronic LHON thickness values. In chronic LHON and DOA, both the pRNFL and RGC-IPL were significantly thinner in all four retinal quadrants relative to controls. Conclusions: This article represents the first comparative study of the RGCC between LHON and DOA. Our findings demonstrated significant thickness reductions in pRNFL and macular RGC-IPL in patients with LHON and DOA, with different specific patterns consistent with the general patterns of thinning classically observed. This study suggests the usefulness of the RGCC as a potential in vivo biomarker for assessing disease in patients with LHON and DOA.
Authors: Gabriel Izan Santos Botelho; Solange Rios Salomão; Célia Harumi Tengan; Rustum Karanjia; Felipo Victor Moura; Daniel Martins Rocha; Paula Baptista Eliseo da Silva; Arthur Gustavo Fernandes; Sung Eun Song Watanabe; Paula Yuri Sacai; Rubens Belfort; Valerio Carelli; Alfredo Arrigo Sadun; Adriana Berezovsky Journal: Front Neurol Date: 2021-01-18 Impact factor: 4.003
Authors: Angela J Oh; Giulia Amore; William Sultan; Samuel Asanad; Jason C Park; Martina Romagnoli; Chiara La Morgia; Rustum Karanjia; Michael G Harrington; Alfredo A Sadun Journal: PLoS One Date: 2019-12-10 Impact factor: 3.240
Authors: Kamil Jonak; Paweł Krukow; Katarzyna E Jonak; Elżbieta Radzikowska; Jacek Baj; Anna Niedziałek; Anna Pankowska; Mark Symms; Andrzej Stępniewski; Arkadiusz Podkowiński; Ida Osuchowska; Cezary Grochowski Journal: J Clin Med Date: 2020-09-10 Impact factor: 4.241