Autosomal recessive inheritance in 'senile' retinitis pigmentosa.
A Norwegian family is reported in which two sisters and one brother all had retinitis pigmentosa with unusually late onset of clinical symptoms. The proband was a 64 year old woman who had experienced progressive visual field defect since the age of 57. She had near normal dark adaptation and an extinguished electroretinogram. Her affected sister, 61 years old, and her brother, aged 57, had no or mild subjective symptoms, respectively. Fundus photographs and the results of electrophysiological tests, together with family data indicating autosomal recessive inheritance, are presented.
D000221:Adaptation, Ocular; D004596:Electroretinography; D005260:Female; D005451:Fluorescein Angiography; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism