Patterned dystrophies of the retinal pigment epithelium.
Three varieties of patterned dystrophies of the retinal pigment epithelium have been described in the literature: They are reticular dystrophy, macroreticular dystrophy, and butterfly-shaped pigment dystrophy of the fovea (macula). They are all inherited and are bilateral and symmetric. Results of retinal-function tests in all three varieties were essentially normal, except for the electro-oculogram in the butterfly-shaped pigment dystrophy. We have observed within a single family one member manifesting butterfly-shaped pigment dystrophy, one member with macroreticular dystrophy, and one member with probable reticular dystrophy. Electrophysiologic studies of the retina in these patients were in accord with those already reported, except for supernormal scotopic responses in the latter two patients. This family demonstrates the linkage necessary to tie together a number of entities heretofore considered as separate.
D000328:Adult; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D005260:Female; D005451:Fluorescein Angiography; D005808:Genes, Recessive; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010857:Pigment Epithelium of Eye; D012160:Retina / Q000503:physiopathology; D012162:Retinal Degeneration / Q000235:genetics* / Q000503:physiopathology