Abstract | BACKGROUND: CASE PRESENTATION: Patient 1: 46 year-old woman with diabetes mellitus and hearing loss was referred for an unspecified maculopathy detected during screening evaluation for diabetic retinopathy. Visual acuity was 20/20 in both eyes. Fundus examination showed bilateral macular and peripapillary hyperpigmented/depigmented areas.Patient 2: 45 year-old woman was referred for recent vision loss in her left eye. History was remarkable for chronic fatigue, migraine and diffuse muscular pain. Visual acuity was 20/20 in her right eye and 20/30 in her left eye. Fundus exhibited several nummular perifoveal islands of retinal pigment epithelium atrophy and adjacent pale deposits in both eyes.Retinal anatomy was investigated with autofluorescence, retinal angiography and optical coherence tomography. Retinal function was assessed with automated static perimetry, full-field and multifocal electroretinography and electro-oculography. Genetic testing of mtDNA identified a point mutation at the locus 3243. CONCLUSION: Observation of RPE abnormalities in the context of suggestive systemic findings should prompt mtDNA testing.
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Authors | Alejandra Daruich, Alexandre Matet, François-Xavier Borruat |
Journal | BMC ophthalmology
(BMC Ophthalmol)
Vol. 14
Pg. 77
(Jun 06 2014)
ISSN: 1471-2415 [Electronic] England |
PMID | 24906873
(Publication Type: Case Reports, Journal Article, Review)
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Chemical References |
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Topics |
- DNA, Mitochondrial
(genetics)
- Electroretinography
- Female
- Fluorescein Angiography
- Fundus Oculi
- Humans
- Macular Degeneration
(diagnosis, genetics, physiopathology)
- Middle Aged
- Point Mutation
- Retinal Pigment Epithelium
(pathology)
- Tomography, Optical Coherence
- Visual Acuity
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