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Zusammenfassung: Im folgenden Beitrag werden die Entstehung, Entwicklung und Außenwirkung folgender 8 diagnosespezifischer Patientengruppen seltener Netzhautdegenerationen (SND) in der Patientenorganisation PRO RETINA Deutschland e.V. beschrieben: Atrophia gyrata, Bardet-Biedl-Syndrom (BBS), Refsum-Syndrom, Usher-Syndrom, Zapfen-Stäbchen-Dystrophie (ZSD), Lebersche kongenitale Amaurose (LCA), Chorioideremie, Morbus Stargardt/juvenile Makuladegeneration. Ansätze der Patientenselbsthilfe zur geeigneten Organisation und Interaktion mit dem professionellen System wurden im Rahmen eines BMG-geförderten Projekts unterstützt, analysiert und dokumentiert. Bei SND-Gruppen mit syndromalen Formen liegt im Vergleich zu nichtsyndromalen Formen ein hoher Organisationsgrad vor (Refsum-Syndrom 25%; BBS 14%; Usher-Syndrom 8%); Patienten mit syndromalen Erkrankungen (z. B. Usher-Syndrom) arbeiten auch motivierter in der Selbsthilfe mit. Sie hängen aber mehr von der Unterstützung durch Angehörige und von Hilfsmitteln ab. Folgende Tendenzen bei der Entwicklung der SND-Gruppen waren zu erkennen:

Abstract: · Background: Tumors compressing the optic pathway may lead to irreversible loss of vision which may be detected by the pattern electroretinogram (PERG) because of its relation to ganglion cell function. · Methods: Eyes of 19 patients were tested shortly before and 5–10 days after tumor surgery. Visual acuity, the 30-deg visual field and the transient and steady-state pattern reversal ERG were measured. · Results: Using patterns of 1.5×1.2 deg there was a good correlation between the change of pre- and post-surgical visual performance and most of the pattern ERG amplitudes. For all variables tested – P50, N95 and steady-state amplitude – there was a critical value beyond which the visual outcome could be bad or favorable, whereas patients showing higher amplitudes always remained stable or improved after surgery. · Conclusion: The positive correlation between pattern ERG amplitudes and the post-surgical outcome in the case of tumors affecting the optic pathway may be helpful in predicting the outcome for these patients.

Choroideremia is a progressive tapetochoroidal dystrophy with X-linked transmission leading frequently to blindness in affected males. The choroideremia-locus (TCD) has recently been assigned to the long arm of the X chromosome by linkage to polymorphic DNA markers. In order to further define the location of the gene defect, two families segregating for choroideremia were examined for DNA restriction fragment length polymorphisms. A search was undertaken for linkage with cloned DNA probes from the proximal short and long arm as well as from the mid-portion of the long arm of the X chromosome. Our data suggest that the most plausible gene order on the Xq is: Xcen-DXYS1-DXS3-TCD-DXS11-Xqter.