Article
Autosomal dominant retinitis pigmentosa caused by the threonine-17-methionine rhodopsin mutation: retinal histopathology and immunocytochemistry.
Experimental eye research - 1 Apr 1994
Li Z Y, Jacobson S G, Milam A H
Abstract excerpt
The retinas from a 68-year-old man with autosomal dominant retinitis pigmentosa caused by the threonine-17-methionine rhodopsin mutation were studied. Patients with this mutation have a characteristic clinical phenotype that shows intra- and interfamilial consistency. The retinas were examined by light and electron microscopy, including immunocytochemistry with markers for rods, cones, the retinal pigment...
Topics
- Aged
- Fluorescent Antibody Technique
- Genes, Dominant
- Humans
- Male
- Methionine
- Microscopy, Electron
- Microscopy, Immunoelectron
- Mutation
- Photoreceptor Cells
- Retina