H Gusseck | PubMed Health

PubMed2005

[Retinal implants. Patients' expectations].

The "Pro Retina" Society and the "Retina Implant" Foundation, two patients associations with the goal of "preventing blindness," view the "Retina Implant" project as a possibility for providing blind individuals a modicum of restored vision. Both patients associations cultivated a cooperative relationship with researchers and policy makers already during the research phase, introducing the wishes and concerns of patients into considerations and providing information and the groundwork for acceptance in society and among those who may potentially benefit from the method. An initial survey of patients, the visually impaired, and blind people revealed that recovery of sight not only represents a medical and technical problem but that it also involves numerous psychosocial implications. By adhering to ethical standards in implantations, in particular by taking patient autonomy into consideration, anxieties and fears can be reduced. It would appear from early positive results in a short-term clinical study that soon successful chronic retinal implantation can be expected. The dedication displayed by physicians, researchers, and the industry as well as the willingness of the Federal Ministry for Research to take the risk are appreciated and greatfully accepted by the patients and their relatives.

Blindness↗

PubMed1991

[Autosomal dominant hereditary retinopathia pigmentosa with genetic heterogeneity].

There is considerable clinical variability in autosomal dominant retinitis pigmentosa (ADRP). The underlying biochemical defect had remained unknown until recently, so that it was not possible to determine the primary cause(s) of this phenotypic diversity. Recently, different point mutations and base pair deletions have been identified in the rhodopsin gene in a proportion of patients with ADRP, providing convincing evidence for allelic genetic heterogeneity in this disease. We screened a total of 65 patients with ADRP in Germany, Austria, and Switzerland for the presence of the point mutations described recently at codons 58 and 347 in patients in the USA. Our results show that the frequency of point mutations at codon 347 in the patients studied here is about 3%, a figure similar to that found in the USA. The frequency of the mutation at codon 58 seems to be generally low. The identification of patients with point mutations in the rhodopsin gene offers the possibility, for the first time, of studying the correlation between genotype and disease phenotype.

Chromosome Aberrations↗