Access the full text.
Sign up today, get DeepDyve free for 14 days.
Loading next page...
/lp/american-medical-association/middle-aged-woman-with-bilateral-macular-atrophy-hearing-loss-and-ueE6xRD0Dp
References (12)
-
Yu-ichi Goto, I. Nonaka, S. Horai (1990)
A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathiesNature, 348
-
P. Massin, M. Virally-Monod, B. Vialettes, M. Pâques, H. Gin, B. Porokhov, S. Caillat-Zucman, P. Froguel, V. Paquis-Fluckinger, A. Gaudric, P. Guillausseau (1999)
Prevalence of macular pattern dystrophy in maternally inherited diabetes and deafness. GEDIAM Group.Ophthalmology, 106 9
-
M. Mancuso, D. Orsucci, C. Angelini, E. Bertini, V. Carelli, G. Comi, A. Donati, C. Minetti, M. Moggio, T. Mongini, S. Servidei, P. Tonin, A. Toscano, G. Uziel, C. Bruno, E. Ienco, M. Filosto, C. Lamperti, M. Catteruccia, I. Moroni, O. Musumeci, E. Pegoraro, D. Ronchi, F. Santorelli, D. Sauchelli, M. Scarpelli, M. Sciacco, M. Valentino, L. Vercelli, M. Zeviani, G. Siciliano (2014)
The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?Journal of Neurology, 261
-
Marty Brandon, M. Lott, Kevin Nguyen, Syawal Spolim, S. Navathe, P. Baldi, D. Wallace (2004)
MITOMAP: a human mitochondrial genome database—2004 updateNucleic Acids Research, 33
-
S. Hamazaki, S. Okada, H. Kusaka, T. Fujii, T. Okuno, I. Kashu, O. Midorikawa (1989)
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke‐like EpisodesPathology International, 39
-
Pavlakis (1984)
481Ann Neurol, 16
-
P. Laat, J. Smeitink, M. Janssen, J. Keunen, C. Boon (2013)
Mitochondrial retinal dystrophy associated with the m.3243A>G mutation.Ophthalmology, 120 12
-
J. Serratrice, Cl. Desnuelle, B. Granel, C. deRoux-Serratrice, P. Disdier, P. Weiller (2001)
[Mitochondrial diseases in adults].La Revue de medecine interne, 22 Suppl 3
-
A. El-Hattab, A. Adesina, Jeremy Jones, F. Scaglia (2015)
MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options.Molecular genetics and metabolism, 116 1-2
-
Volker Rummelt, Robert Folberg, V. Ionasescu, Hong Yi, Kenneth Moore (1993)
Ocular pathology of MELAS syndrome with mitochondrial DNA nucleotide 3243 point mutation.Ophthalmology, 100 12
-
La Morgia (2020)
592J Intern Med, 287
-
Carolyn Sue, Paul Mitchell, Denis Crimmins, Con Moshegov, Edward Byrne, John Morris, D. Oxon (1997)
Pigmentary retinopathy associated with the mitochondrial DNA 3243 point mutationNeurology, 49
- Publisher
- American Medical Association
- Copyright
- Copyright 2021 American Medical Association. All Rights Reserved.
- ISSN
- 2168-6165
- eISSN
- 2168-6173
- DOI
- 10.1001/jamaophthalmol.2021.0944
- Publisher site
- See Article on Publisher Site
Abstract
A woman in her 40s was referred to the medical retina service for evaluation of bilateral macular atrophy. Medical history was positive for bilateral sensorineural hearing loss with cochlear origin. What would you do next?
Journal
JAMA Ophthalmology – American Medical Association
Published: Nov 9, 2021