What is LCA gene therapy?

RPE65-associated LCA (RPE65-LCA) is an inherited retinal degeneration caused by the mutations of RPE65 gene and gene therapy has been developed to be a promising treatment. This study aims to evaluate the association between changes in visual function and application of gene therapy in patients with RPE65-LCA.

How Does gene therapy work for LCA?

The gene therapy trial involved treatment of one specific form of LCA caused by faults in a gene called RPE65. This defect prevents normal function of the retina, the light-sensitive layer of cells at the back of the eye, resulting in severely impaired vision from infancy.

What does the RPE65 gene do?

The RPE65 gene provides instructions for making a protein that is essential for normal vision. The RPE65 protein is produced in a thin layer of cells at the back of the eye called the retinal pigment epithelium (RPE).

How is LCA treated?

Gene therapy is currently available for LCA caused by two mutations in a gene called RPE65, which accounts for about six percent of LCA cases. Some people with LCA may also benefit from low-vision aids, including electronic, computer-based and optical aids.

What is the disadvantage of gene therapy?

Gene therapy has some potential risks. A gene can’t easily be inserted directly into your cells. Rather, it usually has to be delivered using a carrier, called a vector. The most common gene therapy vectors are viruses because they can recognize certain cells and carry genetic material into the cells’ genes.

Is LCA recessive or dominant?

LCA is inherited in an autosomal recessive manner, meaning that both parents must carry a defective gene for the condition in order to pass it on to their children. Each of their children has a 25 percent chance of inheriting the two LCA genes (one from each parent) needed to cause the disorder.

What is retinal dystrophy?

Abstract. Retinal dystrophies (RDs) are degenerative diseases of the retina which have marked clinical and genetic heterogeneity. Common presentations among these disorders include night or colour blindness, tunnel vision and subsequent progression to complete blindness.