Choroideremia was first described in 1872 by an Austrian ophthalmologist, Ludwig Mauthner.
2.
He was also the first to describe choroideremia.
3.
Choroideremia is caused by a Rab proteins.
4.
Mutations in this gene are a cause of choroideremia; also known as tapetochoroidal dystrophy ( TCD ).
5.
As of 2017 there is no treatment for choroideremia, however retinal gene therapy clinical trials have demonstrated a possible treatment.
6.
While choroideremia is an ideal candidate for gene therapy A 2015 study used ethical issues that come with the use of embryonic stem cells.
7.
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.
8.
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.
9.
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.
10.
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.
मोबाइल