Natural History of PRPF31 Mutation-Associated Retinal Dystrophy

Prior treatment

• Have used anti-vascular endothelial growth factor (VEGF) agents or corticosteroid injections or implants.
• Have had Ozurdex® implants placed within 3 months or Retisert® or Iluvien® implants placed within 3 years prior to Visit 2.
• Within 3 months prior to Visit 2, have undergone any vitreoretinal surgery (scleral buckle, pars plana vitrectomy, retrieval of a dropped nucleus or intraocular lens, radial optic neurotomy, sheathotomy, cyclodestructive procedures or multiple filtration surgeries \[2 or more\], etc.) or any other ocular surgery.
• Have used any investigational drug or device within 90 days or 5 estimated half-lives of Visit 2, whichever is longer, or plan to participate in another study of drug or device during the study period.
• Have received any prior cell or gene therapy for a retinal condition.

Other illness

• Have any uncontrolled systemic disease that, in the opinion of the Investigator, would preclude participation in the study (e.g., infection, uncontrolled elevated blood pressure, cardiovascular disease, or glycemic control issues) or put the participant at risk due to study procedures.
• Have a history of illicit drug use or alcohol dependency.

Other

• Participants or, in the case of ocular-specific criteria, individual eyes with any of the following will not be allowed to participate in this study:
• Have mutations in genes that cause autosomal dominant retinitis pigmentosa (adRP), X-linked retinitis pigmentosa (XLRP), or presence of biallelic mutations in autosomal recessive RP/retinal dystrophy genes other than PRPF31 mutations.
• Have ocular media opacity or poor pupillary dilation that prohibits quality ophthalmic evaluation or photography.

• Participants must meet all of the following in order to be enrolled into the study:
• Male or female, ≥ 10 years of age at baseline (Visit 2).
• Have a clinical and molecular diagnosis of PRPF31 mutation-associated retinal dystrophy.
• If ≥ 18 years of age, understand the language of the informed consent and are willing and able to provide written informed consent prior to any study procedures. If \< 18 years of age, are willing to assent to study participation in writing and have a legally authorized representative provide written informed consent on your behalf.
• Are willing to comply with the instructions and attend all scheduled study visits.