Multi-center Observation of the Natural Course of Inherited Retinal Dystrophies


Based on a clinical multi-center study of the natural course of inherited retinal dystrophies in Chinese population, screening fundus imaging indicators for patients with Chinese inherited retinal dystrophies, describing the clinical features of Chinese patients with inherited retinal dystrophies, and establishing a diagnosis of hereditary retinal diseases - Follow-up norms; establish a network-based multi-center diagnosis and follow-up platform; obtain a biological sample library of hereditary retinal diseases mainly in China. The research will further improve and enrich the genotype, phenotypic characteristics and natural course of Chinese inherited retinal dystrophies, in order to promote the clinical evaluation of clinical inherited retinal dystrophies and the standardization of genetic diagnosis. It is also the evidence for the best timing for future gene therapy, to obtain the best therapeutic effect, and to provide a theoretical basis for achieving precise treatment.

Study Type

  • Study Type: Observational
  • Study Design
    • Time Perspective: Prospective
  • Study Primary Completion Date: May 30, 2019

Clinical Trial Outcome Measures

Primary Measures

  • Visual acuity
    • Time Frame: 60 months
    • A typical Snellen chart that if frequently used for visual acuity testing

Participating in This Clinical Trial

Inclusion Criteria

1. Patients with IRDs whose mutations have been identified 2. 4~70 years old 3. Complete 4 basic examinations of the eye: Corrective vision; fundus photography; OCT; ERG Exclusion Criteria:

1. Has participated in other interventional treatment studies; 2. Patients with severe systemic diseases, mental dysplasia, mental illness; 3. Unable to accept eye examination patients; 4. Traumatic retinopathy, retinal inflammatory disease, paraneoplastic retinopathy, drug toxicity, and rare diseases such as diffuse unilateral subacute optic retinitis 5. At the initial visit, the patient's binocular vision is displayed as no light. 6. Both eyes have a history of internal eye surgery

Gender Eligibility: All

Minimum Age: 4 Years

Maximum Age: 70 Years

Are Healthy Volunteers Accepted: No

Investigator Details

  • Lead Sponsor
    • Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine
  • Provider of Information About this Clinical Study
    • Principal Investigator: Xiaodong Sun, Professor – Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine
  • Overall Official(s)
    • XiaoDong Sun, PHD, Principal Investigator, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine
  • Overall Contact(s)
    • huixun Jia, Master, +86 18017317575,

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