[Retinal pigment epithelium atrophy and hypacousia in monozygotic twin sisters].
Mitochondrial A3243G point mutations cause variable pathologic changes in different organs. Funduscopy revealed sharply demarcated central areas of atrophy of the retinal pigment epithelium (RPE) which corresponded to the visual field defects. Fundus autofluorescence was reduced in the areas of RPE atrophy but showed granular hyperfluorescence of the adjacent RPE. Heteroplasmic mitochondrial mutations may cause variable changes in different organ systems. However, the ocular phenotype in the described pair of twins was almost identical. Fundus autofluorescence showed little progression of the RPE atrophy.
Oppermann
T
T
Klinik für Ophthalmologie des Universitätsklinikums Schleswig-Holstein, Campus Kiel, Haus 25, Arnold-Heller-Strasse 3, 24105 Kiel, Deutschland. toppermann@auge.uni-kiel.de
Roider
J
J
Hillenkamp
J
J
D000328:Adult; D001284:Atrophy / Q000150:complications / Q000473:pathology; D004200:Diseases in Twins / Q000150:complications* / Q000473:pathology*; D005260:Female; D034381:Hearing Loss / Q000175:diagnosis* / Q000209:etiology*; D006801:Humans; D012163:Retinal Detachment / Q000150:complications* / Q000473:pathology*; D014430:Twins, Monozygotic