Natural History Study of Patients With X-linked Retinal Dystrophy Associated With Mutations in Retinitis Pigmentosa GTPase Regulator (RPGR)
Last updated on July 2021Recruitment
- Recruitment Status
- Recruiting
- Estimated Enrollment
- 55
Summary
- Conditions
- Retinitis Pigmentosa
- Type
- Observational
- Design
- Observational Model: OtherTime Perspective: Prospective
Participation Requirements
- Age
- Between 5 years and 125 years
- Gender
- Both males and females
Description
X-linked Retinitis Pigmentosa (XLRP) is a severe form of RP with early onset of nyctalopia and progression to legal blindness by the 3rd to 4th decade. Most affected males show symptomatic night blindness before the age of 10 years, are often myopic and show fundus abnormalities and ERG changes in e...
X-linked Retinitis Pigmentosa (XLRP) is a severe form of RP with early onset of nyctalopia and progression to legal blindness by the 3rd to 4th decade. Most affected males show symptomatic night blindness before the age of 10 years, are often myopic and show fundus abnormalities and ERG changes in early childhood. Examination of close female relatives is helpful in the absence of a family history, as the recognition of the XL carrier state will confirm the diagnosis.
Tracking Information
- NCT #
- NCT03349242
- Collaborators
- Janssen, LP
- Investigators
- Principal Investigator: Michel Michaelides, Prof UCL/Moorfields