Abnormal rod dark adaptation in autosomal dominant retinitis pigmentosa with proline-23-histidine rhodopsin mutation.

Abstract excerpt

We studied rod and cone function in 13 patients from four families with autosomal dominant retinitis pigmentosa and the proline-23-histidine rhodopsin mutation. In patients with early stages of this disease, rod sensitivity was mildly abnormal throughout the retina and cone sensitivity was normal. In more severely affected patients, sensitivity loss varied with retinal region, some regions showing mild rod loss...

Topics

• Adolescent
• Adult
• Aged
• Codon
• Dark Adaptation
• Electroretinography
• Female
• Histidine
• Humans
• Male
• Middle Aged
• Mutation