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Pigmentepithelatrophie und Hypakusis bei monozygoten Zwillingsschwestern

Retinal pigment epithelium atrophy and hypacousia in monozygotic twin sisters

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Zusammenfassung

Mitochondriale A3243G-Punktmutationen verursachen variable Veränderungen in verschiedenen Organen. Funduskopisch zeigten sich scharf begrenzte zentrale Atrophiezonen des retinalen Pigmentepithels (RPE), die mit Skotomen im Gesichtsfeld korrespondierten. Die Fundusautofluoreszenz war in den RPE-Atrophiezonen vermindert, im angrenzenden RPE hingegen zeigte sich körnige Hyperfluoreszenz. Mutationen im mitochondrialen Genom mit Heteroplasmie können variable Veränderungen in verschiedenen Organsystemen verursachen. Der okuläre Phänotyp jedoch war bei den vorgestellten Zwillingen nahezu identisch. In der Fundusautofluoreszenz zeigte sich eine geringe Progression der RPE-Atrophie.

Abstract

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.

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  1. Klinik für Ophthalmologie des Universitätsklinikums Schleswig-Holstein, Campus Kiel, Haus 25, Arnold-Heller-Straße 3, 24105, Kiel, Deutschland

    T. Oppermann, J. Roider & J. Hillenkamp

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  1. T. Oppermann
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  2. J. Roider
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  3. J. Hillenkamp
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Correspondence to T. Oppermann.

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Oppermann, T., Roider, J. & Hillenkamp, J. Pigmentepithelatrophie und Hypakusis bei monozygoten Zwillingsschwestern. Ophthalmologe 107, 64–67 (2010). https://doi.org/10.1007/s00347-009-2016-z

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  • DOI: https://doi.org/10.1007/s00347-009-2016-z

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