Retinitis Pigmentosa: The Fight Against Blindness
Cell Therapy and Retinitis Pigmentosa (RP)
Retinitis pigmentosa (RP) is a group of rare and inherited degenerative eye diseases characterised by severe vision damage involving breakdown and progressive loss of retinal cells. This progressive changes to the vision is permanent, but how much and how quickly defers from individual to individual.
Retinitis pigmentosa has a worldwide prevalence of 1 in 3500 – 4000 individuals in a diverse group of progressive retinal degenerative diseases. Almost all types of Retinitis Pigmentosa (RP) are inherited from carrier parent/s to their children.
The Retinitis pigmentosa is caused by the faulty genetic information handed down. The default genes cause the retinal cells to malfunction and eventually die. This affects the eye’s ability to process the light that enters it. Since it stems from the many genes that can cause the retinal cells to malfunction, this then constitute to the many different types of RP. This is why RP is described as a group of inherited retinal disorders.
Generally Retinitis pigmentosa is inherited through Autosomal Dominant Inheritance, Autosomal Recessive Inheritance and X-linked Inheritance.
Autosomal recessive Inheritance
Two copies of the mutant gene give rise to the disorder. The individual with a recessive gene mutation is a carrier. The child from the two carriers has a:
- 1 in 4 chance of having the disorder
- 1 in 2 chance of being a carrier
- 1 in 4 chance of neither having the disorder nor being a carrier
Autosomal dominant Inheritance
Only require one copy of the gene with a disorder-causing mutation to bring about the disorder. When a parent has a dominant gene mutation, there is a 1 in 2 chance that any children will inherit this mutation and the disorder.
Mothers carry the mutated gene on one of their X chromosomes and pass it to their sons. Because females have two X chromosomes, the effect of a mutation on one X chromosome is offset by the normal gene on the other X chromosome.
If a mother is a carrier of an X-linked disorder there is a:
- 1 in 2 chance of having a son with the disorder
- 1 in 2 chance of having a daughter who is a carrier
Treatment Options for Retinitis Pigmentosa
Currently there is no perfect treatment available to prevent the degeneration of retinal cells to cure Retinitis pigmentosa. Retinitis pigmentosa treatments are mainly aimed at restoring vision at best.
Although efficacy and efficiency of various supplements like Vitamin A (powerful antioxidant), DHA (Docosahexaenoic acid), an omega-3 fatty acid found in fish, shown to be vital in normal brain and eye development and Lutein as a potential treatment options has been evaluated from the last few years for the delaying and preventing disease progression.
Clinical studies investigating optic prosthetic devices, gene therapy mechanisms for eye treatment and retinal sheet transplantations are active areas of study in the partial restoration of vision in Retinitis Pigmentosa patients. Vitamin A, DHA and Lutein seem to be promising treatment options for delaying disease progression or delay of rod photoreceptor degeneration.
Retinal implants of eye, supplies visual image information into the retina by electrically stimulating the surviving retinal neurons. Electronic eye transplant (Argus retinal prosthesis or bionic eye) has become the potentially first approved treatment for the disease and have potential to help adults with ability to prevent cone photoreceptor cell death in RP.
Could Cell Therapy Help Retinitis Pigmentosa?
Cell Therapy is an innovative and novel approach for the restoration of vision in Retinitis pigmentosa. Because visual loss usually occurs when the outer retinal photoreceptor layer is lost, therapeutic timing should be at this stage of the disease.
Carolin McDonald Testimonial on Cell Therapy
Caroline McDonald, a degenerative eye disease patient from Australia shares her story on how Cell Therapy has improved her condition and helped her.
Retinal degenerative diseases such as retinitis pigmentosa are phenotypically diverse but have shown significant promise in being treated with cell therapies. Researchers believe that the injected cells from the therapy will release proteins that will keep the patient’s existing photoreceptors healthy, preventing their degeneration and preserving vision.
It is also believe that the proteins might rescue cones that have stopped processing light, but haven’t fully degenerated. Cones are the photoreceptors that provide the ability to read, recognise faces, and see in lighted conditions.
Despite its novelty approach, cell therapy remains to be possibly the most effective therapy for Retinitis Pigmentosa.
What is Retinitis Pigmentosa?
Retinitis pigmentosa is characterised by progressive loss of photoreceptors leading to degeneration of retina and atrophy. Retina is a light sensitive tissue that covers the back of the eye and contains photoreceptors and other cell types.
Photoreceptor cells are responsible for color visualisation, clarity of vision, and vision in the central visual field. These cells are found in retinal tissue and functions as a visual phototransduction i.e., it converts light into electrical signals for the stimulation of biological processes of the visual system.
Photoreceptor cells consist mainly of three types, rods, cones and ganglion cells. Rods and cones are acting in contributing visual information to the eye for the representation of the visual sight. Rods are narrower than the cones, extremely sensitive and can be stimulated by a single light photon. Visualisation at very low light levels is solely based on rod cells signals.
Retinitis Pigmentosa Symptoms
Early stage of RP is indicated by degeneration of the photoreceptor rod cells which results in decreased electrical signals for visualisation, loss of night vision, gradual loss of peripheral or side vision, loss of central vision, problems in color vision and eventually leading to blindness after several years.
Sensitivity to bright light, sight difficulty in darkness and vision loss are commonly seen in patients affected by Retinitis pigmentosa.
To conclude RP is a rare genetic disorder of eye with loss of photoreceptors and degenerative retina eventually leading to blindness. Cell Therapy has great potential for the successful treatment of retinitis pigmentosa.
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