[Retinitis pigmentosa and sensory atactic polyneuropathy with reduction of apolipoprotein B].
In this paper we discuss a female patient with retinitis pigmentosa. Pronounced pigmentation in the periphery, together with yellow waxlike optical atrophy and contracted arteries, characterized the ophthalmological findings. The ERG was extinguished. The neurological examination revealed preponderantly atactical polyneuropathy accompanied by primary axonal degeneration. Chemical laboratory values indicated a reduction in apolipoprotein B in the patient and in her children as well, who showed no clinical symptoms.
Hammerstein
W
W
Universitäts-Augenklinik, Düsseldorf, Bundesrepublik Deutschland.
D000328:Adult; D001706:Biopsy; D005260:Female; D006801:Humans; D006995:Hypobetalipoproteinemias / Q000175:diagnosis / Q000235:genetics*; D009422:Nervous System Diseases / Q000175:diagnosis / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics*; D012677:Sensation / Q000502:physiology; D013132:Spinocerebellar Degenerations / Q000175:diagnosis / Q000235:genetics*; D013497:Sural Nerve / Q000473:pathology
Retinopathia pigmentosa und sensible ataktische Polyneuropathie mit Reduzierung des Apolipoproteins B.