Retinitis Pigmentosa is a rare, degenerative disease that is typically hereditary and can result in severe visual impairment. In some cases, people can develop Retinitis Pigmentosa if they have no family history and in other cases some people can develop this condition in collaboration with another disorder, such as waardenberg syndrome (a genetic disorder present at birth) and alport syndrome (a genetic condition categorized by eye abnormalities and hearing loss). Retinitis Pigmentosa is usually caused by a recessive gene, this means the abnormal gene must be inherited from both parents. Some cases of RP have been associated with genetic mutations on the X chromosome. Other cases of RP are as a result of a dominant gene, meaning that patients who present with this disease if they inherit the mutated gene from just one parent.
The cells in the retina that receive visual images are called the photoreceptors, there are two types of photoreceptors: rods, which are responsible for vision in dim light and cones, which are responsible for colour vision and detail in bright light. In Retinitis Pigmentosa (RP), these photoreceptors gradually lose function affecting the patient's peripheral vision, night vision and in advanced stages of the disease, central vision typically declines. Worldwide, Retinitis Pigmentosa (RP) affects an estimated 1 in 5 thousand people. As the disease becomes more severe over time, most patients retain at least partial vision, complete blindness in patients with Retinitis Pigmentosa is rare.
Symptoms of Retinitis Pigmentosa can vary between patients. The first symptom of the disease are typically compromised night vision and difficulty seeing in dim light, this is then followed by limited peripheral vision. As the disease progresses, Retinitis Pigmentosa (RP) causes tunnel vision, which means only objects directly in front of the eye can be seen. Central vision will then begin to deteriorate, resulting in difficulty seeing detailed images and difficulty reading. When patients with RP are exposed to bright light or sunlight, they often experience a glare that makes it difficult to see.
Currently, there is no cure or sufficient treatment for Retinitis Pigmentosa, but there are a number of ways to manage the condition.
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