Principal Investigator: Paul Bernstein
Keywords: Usher Syndrome type 2A , Genetic disorder , Natural history study Department: Ophthalmology-Services
IRB Number: 00103467
Specialty: Ophthalmology
Sub Specialties: Retinal Diseases
Recruitment Status: Active, not recruiting

Contact Information

Susan Allman

Simple Summary

To describe the natural history of Usher Syndrome type 2A, characterize clinical and genetic sub-populations of patients, and identify possible structural and functional outcome measures that could be used in future treatment trials

Inclusion Criteria

Participant Inclusion Criteria

  1. Willing and able to complete the informed consent process

  2. Ability to return for all study visits over 48 months if in the natural history study

  3. Age ≥ 8 years

  4. 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:

  1. Clinical diagnosis of a rod-cone degeneration

  2. Clear ocular media and adequate pupil dilation to permit good quality photographic imaging

  3. Ability to perform kinetic and static perimetry reliably

Inclusion criteria for DAVF ancillary study:

All RUSH2A adult participants enrolled in the primary cohort will be eligible to enroll in this optional sub-study.


Exclusion Criteria

Study Participant Exclusion Criteria

  1. 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

  2. Expected to enter experimental treatment trial at any time during this study

  3. 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:

  1. Current vitreous hemorrhage

  2. Current or any history of rhegmatogenous retinal detachment  

  3. 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

  4. History of intraocular surgery (e.g., cataract surgery, vitrectomy, penetrating keratoplasty, or LASIK) within the last 3 months

  5. Current or any history of confirmed diagnosis of glaucoma (e.g., based on glaucoma visual field, nerve changes, or glaucoma filtering surgery)

  6. Current or any history of retinal vascular occlusion or proliferative diabetic retinopathy

  7. Expected to have cataract removal surgery during the study

  8. History or current evidence of ocular disease that, in the opinion of the investigator, may confound assessment of visual function

  9. 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)

Exclusion criteria for DAVF ancillary study: None


Participant Reimbursement

Participants will be compensated $75 for each the first and final study visits, and $50 for each annual visit (years 1, 2 and 3) up to a total maximum of $300