Rate of Progression in USH2A-related Retinal Degeneration

Korábbi kezelés

• Current or any history of (e.g., prior to cataract or refractive surgery) spherical equivalent of the refractive error worse than -8 Diopters of myopia
• Expected to have cataract removal surgery during the study

Más betegség

• History of more than 1 year of cumulative treatment, at any time, with an agent associated with pigmentary retinopathy (including hydroxychloroquine, chloroquine, thioridazine, and deferoxamine)
  • Ocular Exclusion Criteria
  • If either eye has any of the following, the patient is not eligible:
• Current vitreous hemorrhage
• Current or any history of rhegmatogenous retinal detachment
• History of intraocular surgery (e.g., cataract surgery, vitrectomy, penetrating keratoplasty, or LASIK) within the last 3 months
• Current or any history of confirmed diagnosis of glaucoma (e.g., based on glaucoma visual field, nerve changes, or glaucoma filtering surgery)
• Current or any history of retinal vascular occlusion or proliferative diabetic retinopathy
• History or current evidence of ocular disease that, in the opinion of the investigator, may confound assessment of visual function
• History of treatment for retinitis pigmentosa that could affect the progression of retinal degeneration (including participation in a clinical trial within the last year or a retained drug delivery device)

Egyéb

• Mutations in genes that cause autosomal dominant RP, X-linked RP, or presence of biallelic mutations in autosomal recessive RP/retinal dystrophy genes other than USH2A
• Expected to enter experimental treatment trial at any time during this study

• Willing and able to complete the informed consent process
• Ability to return for all study visits over 48 months if in the natural history study
• Age ≥ 8 years
• At least 2 pathogenic or likely pathogenic mutations in USH2A gene from a clinically certified lab report
  • Ocular Inclusion Criteria
  • Both eyes must meet all of the following:
• Clinical diagnosis of a rod-cone degeneration
• Clear ocular media and adequate pupil dilation to permit good quality photographic imaging
• Ability to perform kinetic and static perimetry reliably