[Retinitis pigmentosa. Clinical findings, results of molecular genetic techniques and research perspectives].
In recent years, research efforts in the basic and clinical sciences have yielded numerous new findings. The review given here outlines clinical findings, research results, and perspectives on the origin of hereditary retinal degeneration as far as molecular genetics, biochemistry, morphology, and clinical research are concerned: genotype-phenotype correlation, electroretinography, color perimetry, blue cone function, exogenous factors, refraction problems, fat metabolism, immunological aspects, retinal transplantation, and phenocopies of retinitis pigmentosa and related syndromes. The consequences for ophthalmological practice are pointed out and comprehensive, improved diagnostic procedures are recommended, using a checklist proposed here (see appendix).
Zrenner
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E
Abteilung für Pathophysiologie des Sehens und Neuroophthalmologie, Universitäts-Augenklinik Tbingen.
Rüther
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K
Apfelstedt-Sylla
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E
D000328:Adult; D005799:Genes, Dominant / Q000235:genetics; D005808:Genes, Recessive / Q000235:genetics; D005817:Genetic Counseling; D005838:Genotype; D006801:Humans; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics*; D012243:Rhodopsin / Q000235:genetics
D012243:Rhodopsin
Retinitis pigmentosa. Klinische Befunde, molekulargenetische Ergebnisse und Forschungsperspektiven.