Innovative Journal Journal of Medical Biomedical and Applied Sciences 2277:4939 10 06 Monitoring of outer retinal atrophy in maternally inherited diabetes and deafness by optical coherence tomogrpahy 1 Josef Finsterer, MD, PhD Krankenanstalt Rudolfstiftung, Messerli Institute, Austria Journal Article https://doi.org/10.15520/ijmhs.v10i03.289 Abstract Key words: mtDNA, mitochondrial, retina, ophthalmologic, m.3243A>G, heteroplasmy Bellmann, Caren, Neveu, Magella M., Scholl, Hendrik P. N., Hogg, Chris R., Rath, Pamela P., Jenkins, Sharon, Bird, Alan C., Holder, Graham E., Localized Retinal Electrophysiological and Fundus Autofluorescence Imaging Abnormalities in Maternal Inherited Diabetes and Deafness, Investigative Opthalmology & Visual Science, 2004, 45, 7, 2355, 2355, 1552-5783, 10.1167/iovs.03-1090, Association for Research in Vision and Ophthalmology (ARVO), https://dx.doi.org/10.1167/iovs.03-1090 Souied, Eric, Mashhour, Babak, Morel, Xavier, Cohen, Yves, Bonnefond, Jean-Paul, Munnich, Arnold, Chauvaud, Dominique, Renard, Gilles, Kaplan, Josseline, Retinal branch vein occlusion associated with macular dystrophy, maternally inherited diabetes, and deafness, Ophthalmic Genetics, 1997, 18, 3, 157, 160, 1381-6810, 1744-5094, 10.3109/13816819709057130, Informa UK Limited, https://dx.doi.org/10.3109/13816819709057130 Massin, P, Dubois-Laforgue, D, Meas, T, Laloi-Michelin, M, Gin, H, Bauduceau, B, GEDIAM (Mitochondrial Diabetes French Study Group). Retinal and renal complications in patients with a mutation of mitochondrial DNA at position 3,243 (maternally inherited diabetes and deafness). A case-control study, Diabetologia, 2008, 51, 1664, 1670 Ducos, C., Rigo, M., Larroumet, A., Delyfer, M.-N., Korobelnik, J.-F., Monlun, M., Foussard, N., Poupon, P., Haissaguerre, M., Blanco, L., Mohammedi, K., Rigalleau, V., Diabetic retinopathy in well-controlled type 2 diabetes: Role of glycaemic memory, Diabetes & Metabolism, 2020, 20, 30058, 30064, 1262-3636, 10.1016/j.diabet.2020.03.005, Elsevier BV, https://dx.doi.org/10.1016/j.diabet.2020.03.005 Müller, Philipp L., Maloca, Peter, Webster, Andrew, Egan, Catherine, Tufail, Adnan, Structural Features Associated with the Development and Progression of RORA Secondary to Maternally Inherited Diabetes and Deafness, American Journal of Ophthalmology, 2020, 20, 30253, 30254, 0002-9394, 10.1016/j.ajo.2020.05.023, Elsevier BV, https://dx.doi.org/10.1016/j.ajo.2020.05.023 Motlagh Scholle, Leila, Zierz, Stephan, Mawrin, Christian, Wickenhauser, Claudia, Lehmann Urban, Diana, Heteroplasmy and Copy Number in the Common m.3243A>G Mutation—A Post-Mortem Genotype–Phenotype Analysis, Genes, 2020, 11, 2, 212, 212, 2073-4425, 10.3390/genes11020212, MDPI AG, https://dx.doi.org/10.3390/genes11020212 Müller, Philipp L., Treis, Tim, Pfau, Maximilian, Esposti, Simona Degli, Alsaedi, Abdulrahman, Maloca, Peter, Balaskas, Konstantinos, Webster, Andrew, Egan, Catherine, Tufail, Adnan, Progression of Retinopathy Secondary to Maternally Inherited Diabetes and Deafness – Evaluation of Predicting Parameters, American Journal of Ophthalmology, 2020, 213, 134, 144, 0002-9394, 10.1016/j.ajo.2020.01.013, Elsevier BV, https://dx.doi.org/10.1016/j.ajo.2020.01.013 Finsterer, Josef, Frank, Marlies, The Tip of the Iceberg in Maternally Inherited Diabetes and Deafness, Oman Medical Journal, 2018, 33, 5, 437, 440, 1999-768X, 2070-5204, 10.5001/omj.2018.80, Oman Medical Journal, https://dx.doi.org/10.5001/omj.2018.80 Daruich, Alejandra, Matet, Alexandre, Borruat, François-Xavier, Macular dystrophy associated with the mitochondrial DNA A3243G mutation: pericentral pigment deposits or atrophy? Report of two cases and review of the literature, BMC Ophthalmology, 2014, 14, 1, 77, 77, 1471-2415, 10.1186/1471-2415-14-77, Springer Science and Business Media LLC, https://dx.doi.org/10.1186/1471-2415-14-77 Cardenas-Robledo, Simon, Saber Tehrani, Ali, Blume, Gregory, Kattah, Jorge C., Visual, Ocular Motor, and Cochleo-Vestibular Loss in Patients With Heteroplasmic, Maternally-Inherited Diabetes Mellitus and Deafness (MIDD), 3243 Transfer RNA Mutation, Journal of Neuro-Ophthalmology, 2016, 36, 2, 134, 140, 1070-8022, 10.1097/wno.0000000000000340, Ovid Technologies (Wolters Kluwer Health), https://dx.doi.org/10.1097/wno.0000000000000340