[Vitreoretinal dystrophy with vitreous haemorrhage (author's transl)].
In two generations of a big family two men in each generation were struck with a vitreoretinal disease, which led to vitreous haemorrhage and were first was interpreted as Periphlebitis retinae (Eale's disease). Preretinal, perforated membranes containing vessels and a severe macular degeneration pointed to a vitreoretinal dystrophy. The uniform alteration of the ERG with reduction of the b-waves were striking in all four patients. Judging from the X-chromosomal pattern of transmission, from the juvenile vitreous haemorrhages and from the macular dysplasia with radial plication we seem to be dealing with a sexlinked juvenile retinoschisis, although at first microscopic examination the vitreous veils did not make us think of a retinoschisis.
D000367:Age Factors; D004596:Electroretinography; D005128:Eye Diseases / Q000235:genetics / Q000503:physiopathology; D008040:Genetic Linkage; D006470:Hemorrhage / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012162:Retinal Degeneration / Q000235:genetics*; D012729:Sex Chromosome Aberrations; D012730:Sex Chromosomes; D014822:Vitreous Body / Q000503:physiopathology
Vitreoretinale Degeneration mit Glaskörperblutung