Retinal function and rhodopsin levels in autosomal dominant retinitis pigmentosa with rhodopsin mutations.

doi:10.1016/s0002-9394(14)76726-1

Back to search

Article

Retinal function and rhodopsin levels in autosomal dominant retinitis pigmentosa with rhodopsin mutations.

American journal of ophthalmology - 15 Sept 1991

Jacobson S G, Kemp C M, Sung C H, Nathans J

Abstract excerpt

We studied rod and cone function in 20 patients from six families with autosomal dominant retinitis pigmentosa, who represented five different point mutations in the gene encoding rhodopsin. In a family with a stop codon mutation at the carboxyl end of the molecule (glutamine-344), young members...

Topics

Adolescent
Adult
Aged
Dark Adaptation
Electrophysiology
Female
Humans
Male
Middle Aged
Mutation
Pedigree
Phenotype
Photoreceptor Cells
Protein Conformation
Retinitis Pigmentosa
Rhodopsin
Visual Field Tests
Visual Fields

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.