Effect of gene therapy in eye sight

Gene therapy is an insertion of a working gene into a cell or tissue to treat diseases (Figure 5). This poster will Colour blindness is recessive genetic characteristic and can be congenital, or begin at different ages, and is generally caused
discuss the two forms of blindness; colour, permanent briefly showing examples of certain gene therapy by mutations on the X chromosome, which passes through generations. Hence, females are less likely to be effective by a
treatments which can help treat an improving visual awareness. defective X chromosome as they acquire two copies, shown in Figure 3.

– Blindness is the condition of lacking visual perception due to physiological or neurological factors.
– Colour blindness is a colour vision deficiency; it’s the inability to perceive differences between some of
the colours that others can distinguish.
Human eye [Figure 1] is a sense organ which reacts to light
and allows vision.
The normal human retina contains two kinds of light cells: the
rod cells* (active in low light) and the cone cells* (active in
normal daylight).
* = Figure 2
There are about 120 million rods and about 6 to 7 million
cones in the human eye. Rods are more sensitive than the
cones but they perceive images as black, white and different
shades of grey.
Each cone contains one of three pigments sensitive to either
red green or blue. (Primary colours that can be combined to
make a range of colours)
Each pigment absorbs a particular wavelength of colour.
There are short wavelength cones that absorb blue light,
middle wavelength cones that absorb green light, and long
wavelength cones that absorb red light.
There are typically two forms of colour blindness, one which is inherited and the other acquired. Inherited colour
blindness refers to a genetic inheritance which can be further sub divided into three sections:
– Monochromacy
– Dichromacy
– Trichromacy
Blindness is visual impairment typically caused by
disease and malnutrition; however it can generally
be a congenital disorder by a mutation in genes
which has been passed on to the offspring.
Early 2007 showed the first glimpse of using gene
therapy to treat a patient suffering from a rare
disease known as Leber's congenital amaurosis
an inherited blinding disease caused by mutations
in the RPE65 gene.
RPE65 is a gene that helps in the visual cycle by
converting lecithin-retinol acyltransferase and into
11-cis retinol shown in figure 4, essentially aiding
in the process by which light is converted into
electrical signals.
Recent studies in Genetic therapy indicate a possibility to give sight to
those that suffer from partial colour blindness.
Red-Green colour blindness a sex-linked trait shown in Figure 3 is a
typical form of colour blindness whereby patients are unable to
differentiate between the red-green hues.
Recent experiments in gene therapy open a new chapter in giving
sight to those with this congenital condition. A squirrel monkey known
as Dalton was injected with an adeno-associated viral vector
containing a human photo pigment gene L-opsin, one of three
proteins released when colour-detecting cone cells are hit by different
wavelengths of light. Male squirrel monkeys naturally lack the L-opsin
gene (a gene encoded in the X-chromosome); like people who share
their condition, they’re unable to distinguish between red and green.
Although at first there was no immediate difference over time the
monkey began to differentiate between the colours, it is noted by a
research in the program that their brains may have reconfigured
themselves, “learning how to use the same old circuits in a new way
when the information coming over the lines changed.”
Since human genes were used and the monkeys' eyes and brains are
similar to ours, at least in terms of colour vision, the researchers hope
the same procedure could work in humans.
Figure 4 represents the biological conversion of a photon
into an electrical signal in the retina. This is also known as a visual
cycle.

Figure 5 also shows how the retinal gene therapy

was undertaken.

– “The needle is inserted through the eye and into the retina.
– The replacement gene is injected between the two layers of cells which make up the
retina. It is a faulty gene in the pigment layer which is preventing the photoreceptor cells
from detecting light.
– Once treated, the cells in the pigment layer are restored and can support the
photoreceptor cells to detect light as normal.
– The photoreceptor cells can now send nerve impulses to the optic nerve for transmitting
to the brain.”