[Albescent punctate retinopathy with central pigment epithelium atrophy].
A 45-year-old Italian patient suffering from punctate retinopathy associated with a central atrophy of the retinal pigment epithelium is described. He has suffered from nyctalopia since early childhood, and over the last 3 years has become increasingly susceptible to dazzling. Funktion tests revealed pathologic monofunctional dark adaptation of cones, centrocecal scotoma, a pathologic electro-oculogram and residual a-waves at high light stimulus intensities in the electroretinogram. An autosomal-recessive mode of inheritance is assumed, as 4 of the patient's 9 siblings have the same signs.
D004585:Electrooculography; D004596:Electroretinography; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D008875:Middle Aged; D009755:Night Blindness / Q000175:diagnosis*; D010375:Pedigree; D010857:Pigment Epithelium of Eye / Q000473:pathology*; D012164:Retinal Diseases / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D012607:Scotoma / Q000175:diagnosis
Retinopathia punctata albescens mit zentraler Pigmentepithelatrophie.