Create a patient database for label genetic opticism in Japan

Create a patient database for label genetic opticism in Japan

Label hereditary neuropathy (LHON) is an acute or subacute optic neuropathy that is caused by mitochondrial gene point mutation and causes the mother gene. The diagnostic criteria were created in 2015 and were designated as incurable disease in 2016. Unlike other mitochondrial diseases, this disease peaks in the 10s and 30s, and after the onset, the visual function declines rapidly, but the subsequent medical condition is stable and the visual function is naturally restored. In some cases,
Since there is still insufficient accumulation of clinical information on LHON in Japan, this study will conduct an epidemiological survey of LHON patients in Japan and create a database of the total number of LHON patients and their medical conditions in Japan.

For cases diagnosed with LHON, 1. gender, 2. age, 3. duration, 4. genetic mutation location, 5. diagnostic category, 6. diagnostic facilities, 7. family history, 8. drug used, 9. body and mental illness, 10. mitochondrial disease name to be combined, 11. minimum visual acuity, and 12.1.1.1.

All cases diagnosed with LHON (approximately 5,000 cases)
※Since LHON is in their 10s and 30s, minors are also included in the target.

Until March 31, 2031

For the following items, information is obtained from existing medical record data.
1.Patient gender
2.Age of onset
3.Morbidity period
4.Gene mutation points
5.Diagnosis category
6.Diagnostic facilities
7.Family history
8.Drugs used
9.Name of physical and mental illness
10.Name of mitochondria disease to be merged
11.Minimum vision
12. Latest visual acuity every year
This research is a multi-center joint research led by Kobe University Hospital Ophthalmology, and the acquired information is provided to Kobe University Hospital Ophthalmology.

All information is anonymized so that individuals cannot be identified. In addition, the information obtained will be stored in a lockable place for 10 years after the cancellation or termination of the research, and 10 years from the date of publication of the research results such as papers, whichever is later, and then discarded in a state where individuals cannot be identified.

Since this study is limited to observational research using existing information, there is no burden or risk of becoming a subject of this study. At the same time, there is no profit.

If you have any questions or concerns about this research, please contact the following address.
If you wish, you can browse the research plan and related materials within a range that does not interfere with the protection of personal information and intellectual property of other research subjects, so please contact us by telephone or fax.
In addition, if the patient or the patient's proxy/agent does not understand that the sample or information is used in the research, it will not be included in the research. Please contact the following address. Even in that case, there is no disadvantage to the patient.

〒235-0012 1-2-1, Takigashira, Isogo-ku, Yokohama-shi, Kanagawa
Yokohama City Apolexy and Spinal Nerves Center Neuroscience Internal medicine
Ken Shirokura
TEL: 045-753-2500 (Representative) FAX: 045-753-2859