Genetic testing for inherited retinal dystrophies and genetic counseling

Sysmex0 个研究点目标入组 100 人开始时间: 2021年10月4日最近更新: 2024年3月11日

试验速览

暂无简介。

•Patients having hereditary retinal dystrophy and patients suspected having hereditary retinal dystrophy due to difficulty in diagnosing from autoimmune retinopathy.
•Age: 20 years-old or older. However, if the doctor deems it necessary, participation in gene therapy abroad is reported to be over 4 years old, so participation over 4 years old is also possible.
•Peripheral blood sample (5 mL) required for the test can be submitted.
•Informed consent has been obtained from the patient for participation in this study (if the patient is under 20 years of age, consent is also obtained from the parental authority (or guardian of the minor)).
•Patients whose causative gene has been identified by participating in the study at each institution can participate in this study because the criteria for analysis are not fixed for each institution.

Causative gene identification rate

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发起方