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choroideremia मीनिंग इन हिंदी
choroideremia उदाहरण वाक्य
उदाहरण वाक्य
अधिक: आगे- Choroideremia was first described in 1872 by an Austrian ophthalmologist, Ludwig Mauthner.
- He was also the first to describe choroideremia.
- Choroideremia is caused by a Rab proteins.
- Mutations in this gene are a cause of choroideremia; also known as tapetochoroidal dystrophy ( TCD ).
- As of 2017 there is no treatment for choroideremia, however retinal gene therapy clinical trials have demonstrated a possible treatment.
- While choroideremia is an ideal candidate for gene therapy A 2015 study used ethical issues that come with the use of embryonic stem cells.
- In many inherited retinal diseases the protein affected by the mutation is directly involved in the light sensing function of the eye, however this is not the case in choroideremia.
- A diagnosis of choroideremia can be made based on family history, symptoms, and the characteristic appearance of the genetic testing techniques can be used to make a differential diagnosis.
- In 2016, researchers were optimistic that the positive results of 32 choroideremia patients treated over four and a half years with gene therapy in four countries could be long-lasting.
- The technology spin-out was developed with gene therapy treatments to treat choroideremia-an inherited cause of blindness affecting 1 in 50, 000-and other forms of inherited retinal dystrophy.