Multi-center Observation of the Natural Course of Inherited Retinal Dystrophies (RID)

Shanghai Jiao Tong University

Status: Unknown

Conditions: Inherited Retinal Dystrophies

Study type: Observational

Funder types: Other

Identifiers

NCT03691168

Shanghai1stSXD

Details and patient eligibility

About

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.

Enrollment: 500 estimated patients

Sex: All

Ages: 4 to 70 years old

Volunteers: No Healthy Volunteers

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