An Observational Study of Japanese Participants With X-linked Retinitis Pigmentosa

Prospective Observational Study to Estimate the Genotype and Phenotype of Japanese Patients With X-linked Retinitis Pigmentosa Associated With Pathogenic Variants in Retinitis Pigmentosa GTPase Regulator (RPGR)

The purpose of the study is to identify a cohort of Japanese participants with X-linked retinitis pigmentosa (XLRP) associated with pathogenic variants in the retinitis pigmentosa GTPase regulator (RPGR) gene and to investigate their associated phenotype.

Inclusion Criteria:

• Have RPGR-associated retinal dystrophy
• Are able to give informed consent or assent, with the guidance of their parent/guardian where appropriate
• Are able to undertake age-appropriate clinical assessments as specified in the protocol

Exclusion Criteria:

• Are unable or unwilling to undertake consent or clinical testing
• Participated in another research study and had intraocular surgery within 3 months of screening
• Significant ophthalmologic diseases