[Early diagnosis and heterogeneity of retinitis pigmentosa].
Early diagnosis of retinitis pigmentosa and related diseases is based on a specific history, on perimetry of the outer isopters, and on rod/cone electroretinography. The remarkable variability of phenomenology, age of onset and genetic pattern, however, often complicate early diagnosis. Continuous consulting and documentation of the course of the disease are considered a meaningful care by the physician and represent the basis for the tasks of the geneticist.
Niemeyer
G
G
Neurophysiologie-Laboratorium, Augenklinik des Universitätsspitals Zürich.
D004596:Electroretinography; D006801:Humans; D010641:Phenotype; D012017:Referral and Consultation; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics*; D058609:Visual Field Tests
Frühdiagnose und Heterogenität der Retinitis pigmentosa.