Bernardo, Ronachelle Anne G.

Group 9

BSN 3-C

Case: Retinitis Pigmentosa

Retinitis pigmentosa (RP) is a collection of hereditary eye illnesses that impair the
retina, the layer of tissue at the back of the eye that detects light and transmits visual
information to the brain. RP is characterized by the gradual degeneration of retinal cells,
particularly photoreceptor cells known as rods and cones, which are responsible for vision in
dim and strong light, respectively.
Retinitis pigmentosa can be classified into several types based on their genetic cause,
inheritance pattern, and clinical features. Some of the most common types of RP include:
Autosomal dominant RP: This type of RP is caused by mutations in one copy of a dominant
gene, which means that an affected individual has a 50% chance of passing on the mutation to
their children. Second, the Autosomal recessive RP: This type of RP is caused by mutations in
two copies of a recessive gene, which means that both parents must be carriers of the mutated
gene for their child to develop the condition. Third, the X-linked RP: This type of RP is caused
by mutations in genes located on the X chromosome and is more common in males than
females. Next, the Syndromic RP: This type of RP is associated with other symptoms or
medical conditions, such as hearing loss, intellectual disability, or kidney problems. Lastly, the
Non-syndromic RP: This type of RP is not associated with any other symptoms or medical
conditions. Each type of RP can have different clinical features and may progress at different
rates. Genetic testing can help determine the specific type of RP and guide treatment options.
The signs and symptoms of retinitis pigmentosa (RP) can vary depending on the stage
and severity of the disease, as well as the specific type of RP. Common signs and symptoms
include night blindness, tunnel vision, peripheral vision, central vision, loss of central vision,
difficulty adjusting to changes in lighting, photophobia, difficulty with color vision, slow
adaptation to lighting changes, and slow regeneration of response. Early diagnosis and
management can help preserve vision and improve quality of life. It is important to note that
not all people with RP experience the same signs and symptoms, and some may have more
severe vision loss than others.
Retinitis pigmentosa (RP) is an inherited condition caused by mutations in genes that
are involved in the normal function and development of the retina. Risk factors include family
history, age, genetic mutations, ethnicity, and other medical conditions. Genetic testing and
early diagnosis can help identify individuals at risk for RP and guide appropriate management
and treatment options. Not all people with risk factors for RP will develop the condition, and
some people with no known risk factors can still develop RP.
 Nursing management for individuals with retinitis pigmentosa (RP) focuses on
supporting their physical and emotional needs, maximizing their functional vision, and
preventing or managing complications associated with the disease. Nursing interventions
include providing education, providing lifestyle modifications, monitoring vision changes,
referring to support services, administering medications, preventing complications, and
promoting overall health and well-being.
As the disease progresses, individuals with RP experience a gradual loss of peripheral
vision, followed by a reduction in central vision, which can eventually lead to complete
blindness. RP affects approximately 1 in 4,000 people worldwide and is a leading cause of
inherited blindness. There is currently no cure for RP, but there are treatments available that
can slow down the progression of the disease and improve vision to some extent.

References
U.S. Department of Health and Human Services. (2022, March 30). Retinitis pigmentosa.
National Eye Institute. https://www.nei.nih.gov/learn-about-eye-health/eye-conditions-and-
diseases/retinitis-pigmentosa
What is retinitis pigmentosa? Foundation Fighting Blindness. (n.d.).
https://www.fightingblindness.org/diseases/retinitis-pigmentosa
Boyd, K. (2022, September 9). What is retinitis pigmentosa? American Academy of
Ophthalmology. https://www.aao.org/eye-health/diseases/what-is-retinitis-pigmentosa
David G Telander, M. D. (2022, August 9). Retinitis Pigmentosa Treatment & Management,
Medical Care, Surgical Care, Consultations.
https://emedicine.medscape.com/article/1227488-treatment