Clinical and Genetic Findings in Patients With PRPF31-associated Retinitis Pigmentosa

University Hospital Tuebingen

Status: Completed

Conditions: Retinitis Pigmentosa

Study type: Observational

Funder types: Other

Identifiers

NCT06368375

PRPF31-3102022BO2

Details and patient eligibility

About

Retrospective chart review study to elucidate the genotype and phenotype of patients with PRPF31-associated retinitis pigmentosa and asymptomatic carriers of the respective variant(s)

Enrollment: 87 patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion criteria

• genetically confirmed PRPF31-associated inherited retinal dystrophy or asymptomatic carrier of the respective variant(s)

Exclusion criteria

• none