gms | German Medical Science

102. Jahrestagung der DOG

Deutsche Ophthalmologische Gesellschaft e. V.

23. bis 26.09.2004, Berlin

Fundus autofluorescence in carriers for choroideremia

Meeting Abstract

  • corresponding author E. Wegscheider - Department of Paediatric Ophthalmology, Stabismology and Ophthalmogenetics, Klinikum of the University, Regensburg
  • M. Preising - Department of Paediatric Ophthalmology, Stabismology and Ophthalmogenetics, Klinikum of the University, Regensburg
  • B. Wabbels - Department of Paediatric Ophthalmology, Stabismology and Ophthalmogenetics, Klinikum of the University, Regensburg
  • B. Lorenz - Department of Paediatric Ophthalmology, Stabismology and Ophthalmogenetics, Klinikum of the University, Regensburg

Evidenzbasierte Medizin - Anspruch und Wirklichkeit. 102. Jahrestagung der Deutschen Ophthalmologischen Gesellschaft. Berlin, 23.-26.09.2004. Düsseldorf, Köln: German Medical Science; 2004. Doc04dogP 214

Die elektronische Version dieses Artikels ist vollständig und ist verfügbar unter: http://www.egms.de/de/meetings/dog2004/04dog705.shtml

Veröffentlicht: 22. September 2004

© 2004 Wegscheider et al.
Dieser Artikel ist ein Open Access-Artikel und steht unter den Creative Commons Lizenzbedingungen (http://creativecommons.org/licenses/by-nc-nd/3.0/deed.de). Er darf vervielf&aauml;ltigt, verbreitet und &oauml;ffentlich zug&aauml;nglich gemacht werden, vorausgesetzt dass Autor und Quelle genannt werden.


Gliederung

Text

Objective

Choroideremia is a rare X linked retinal degeneration caused by mutations in the REP-1 gene. Due to lyonization carriers show a variable funduscopical aspect. Histopathologic studies disclose diseased and normal areas with variable amounts of lipofuscin in the retinal pigment epithelium (RPE) (Syed et al. 2002).

Methods

In four carriers for choroideremia from independent families, a complete ophthalmologic examination was performed. In 2/4 carriers, psychophysical and electrophysical testing was also performed. Two families had moleculargenetically verified mutations. Fundus autofluorescence (AF) was recorded using a HRA (Heidelberg Retina Angiograph).

Results

All four carriers (aged 47, 51, 53, 60 years) had a good visual acuity, but complained about visual problems like photophobia and impaired vision in dim light. Electrophysiological and psychophysical testing revealed functional disturbances in rods and cones. Funduscopy showed RPE changes of variable intensity. In AF a very irregular pattern was seen, which was clearly different from the AF pattern seen in carriers for RP3 (Wegscheider et al., Graefe's Arch Ophth 2004). Besides reduced AF around the optic nerve head, corresponding to the peripapillary atrophy, the whole macular region revealed small areas of reduced AF besides spots of enhanced AF. The central perifoveal area covering 3-4° appeared more homogenous.

Conclusions

All four carriers showed a similar specific AF pattern, which was markedly different from the pattern seen in carriers for RP3. In the early stage, both diseases may have a relatively similar fundus appearance in hemizygotes. AF may therefore help to differentiate the two disease entities.