Article
Clinical Evidence for the Importance of the Wild-Type PRPF31 Allele in the Phenotypic Expression of RP11.
Genes - 14 Jun 2021
Roshandel Danial, Thompson Jennifer A, Heath Jeffery Rachael C, Zhang Dan, Lamey Tina M, McLaren Terri L, De Roach John N, McLenachan Samuel, Mackey David A, Chen Fred K
Abstract excerpt
PRPF31-associated retinopathy (RP11) is a common form of autosomal dominant retinitis pigmentosa (adRP) that exhibits wide variation in phenotype ranging from non-penetrance to early-onset RP. Herein, we report inter-familial and intra-familial variation in the natural history of RP11 using multimodal imaging and microperimetry. Patients were recruited prospectively. The age of symptom onset, best-corrected...
Topics
- Adolescent
- Adult
- Aged
- Alleles
- Eye Proteins
- Female
- Humans
- Male
- Middle Aged
- Mutation
- Pedigree
- Phenotype