Inherited retinal dystrophy
Conditions
Interventions
None listed
Sponsors
Hirami Yasuhiko
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1) Patients having hereditary retinal dystrophy and patients suspected having hereditary retinal dystrophy due to difficulty in diagnosing from autoimmune retinopathy. 2) 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. 3) Peripheral blood sample (5 mL) required for the test can be submitted. 4) 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)). 5) 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.
Exclusion criteria
Exclusion criteria: Patients who refuse to participate in the study
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Causative gene identification rate | — |
Secondary
| Measure | Time frame |
|---|---|
| 1) Sequence success rate 2) Candidate causative gene (variant) identification rate 3) Actionable rate 4) Percentage of patients who were able to perform genetic counseling for all subjects (including candidates) 5) Percentage of people who were able to understand the needs of genetic counseling and provide appropriate information | — |
Contacts
Public ContactAkiko Maeda
Kobe City Eye Hospital
Outcome results
None listed