title: Helicoidal peripapillary chorioretinal degeneration.
abstract: A family with helicoidal peripapillary chorioretinal degeneration is described. This is a rare bilateral fundus affection--only seven more or less typical cases have been reported in the literature. 21 patients from the same family in four generations were examined, 10 men and 11 women. Seven men and six women showed a helicoidal affection. Of this number, there were 11 children aged from 4-17 years, six were girls of whom three had helicoidal fundus and five were boys of whom two were affected. General examination revealed nothing of particular interest. We have here a congenital hereditary fundus anomaly or minor malformation in four generations--young people with normal visual acuity who develop with age a clear tendency to invasion of the macular region by a degenerative process. This is most dangerous for the visual acuity when the atropic helicoidal wings lie in or near the macula region.
mesh_terms: D000293:Adolescent; D000328:Adult; D001284:Atrophy; D002648:Child; D002675:Child, Preschool; D002829:Choroid / Q000473:pathology; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D008297:Male; D010375:Pedigree; D012162:Retinal Degeneration / Q000151:congenital / Q000235:genetics / Q000473:pathology; D014603:Uveal Diseases / Q000151:congenital / Q000235:genetics / Q000473:pathology