Abstract
A patient with mitochondrial myopathy is described. Examination of his fundus revealed bilateral vitelliform degeneration of the maculae. This lesion is a focal abnormality of the retinal pigment epithelium and may be a manifestation of the underlying mitochondrial disease.
Full text
PDF


Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- DiMauro S., Bonilla E., Zeviani M., Nakagawa M., DeVivo D. C. Mitochondrial myopathies. Ann Neurol. 1985 Jun;17(6):521–538. doi: 10.1002/ana.410170602. [DOI] [PubMed] [Google Scholar]
- Harding A. E. The mitochondrial genome--breaking the magic circle. N Engl J Med. 1989 May 18;320(20):1341–1343. doi: 10.1056/NEJM198905183202009. [DOI] [PubMed] [Google Scholar]
- Holt I. J., Harding A. E., Morgan-Hughes J. A. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature. 1988 Feb 25;331(6158):717–719. doi: 10.1038/331717a0. [DOI] [PubMed] [Google Scholar]
- Holt I. J., Harding A. E., Petty R. K., Morgan-Hughes J. A. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet. 1990 Mar;46(3):428–433. [PMC free article] [PubMed] [Google Scholar]
- Kuriyama M., Umezaki H., Fukuda Y., Osame M., Koike K., Tateishi J., Igata A. Mitochondrial encephalomyopathy with lactate-pyruvate elevation and brain infarctions. Neurology. 1984 Jan;34(1):72–77. doi: 10.1212/wnl.34.1.72. [DOI] [PubMed] [Google Scholar]
- Mullie M. A., Harding A. E., Petty R. K., Ikeda H., Morgan-Hughes J. A., Sanders M. D. The retinal manifestations of mitochondrial myopathy. A study of 22 cases. Arch Ophthalmol. 1985 Dec;103(12):1825–1830. doi: 10.1001/archopht.1985.01050120059020. [DOI] [PubMed] [Google Scholar]
- Petty R. K., Harding A. E., Morgan-Hughes J. A. The clinical features of mitochondrial myopathy. Brain. 1986 Oct;109(Pt 5):915–938. doi: 10.1093/brain/109.5.915. [DOI] [PubMed] [Google Scholar]
- REMKY H., RIX J., KLIER K. F. DOMINANT-AUTOSOMALE MACULADEGENERATION (BEST, SORSBY) MIT ZYTISCHEN UND VITELLIFORMEN STADIEN (HUYSMANS, ZANEN)) (GER) Klin Monbl Augenheilkd. 1965 May;146:473–497. [PubMed] [Google Scholar]
- Rosing H. S., Hopkins L. C., Wallace D. C., Epstein C. M., Weidenheim K. Maternally inherited mitochondrial myopathy and myoclonic epilepsy. Ann Neurol. 1985 Mar;17(3):228–237. doi: 10.1002/ana.410170303. [DOI] [PubMed] [Google Scholar]



