Exploration of retinitis pigmentosa and the possible effects of therapy for individuals
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Abstract
Retinitis Pigmentosa (RP) is the leading cause of blindness in people under 60. This cluster of mutations affects about 1 in 4000 people in the United States of America (approximately 200,000 Americans) and 1 in 5000 in the entire world population (about 1,000,000 people worldwide). (O’Neal & Luther, 2024) The average age of onset of symptoms for RP is between 25 to 40, with a median age of 36.5. (Tsujikawa et al., 2008) However, there are cases where the patient can display symptoms before age 20 (as early as ten years old) or after age 65. RP is a cluster of mutations affecting proteins, which diminish or completely impair their function making them unable to transduce light to energy. This ultimately leads to decreased vision. Though RP explicitly causes the breakdown of the RPE and photoreceptors, this physiological description explains how RP can affect the overall vision of an individual. There are no cures for RP and few methods to reduce the onset of the disease such as dietary supplements, minimizing exposure to ultraviolet light, treating comorbid diseases such as cystic macular edema treatments, using visual aids, and undergoing surgery in late-stage RP. Though many promising treatments are being researched the estimated period before these treatments are used in a practical clinical setting is unknown. Therefore, this paper proposes a therapy model that will address the four meta-themes to increase the quality of life of individuals with RP: (1) experience with the healthcare field and social support, (2) managing one's identity with RP, (3) living with the practical and emotional issues with RP, (4) and adaptive/maladaptive coping mechanisms. The model will begin with patients' interactions with physicians during diagnosis and enrollment into therapy. In the counseling portion, the paper will delve into managing identity and developing robust coping mechanisms, which, if worked on, could improve practical and emotional issues with RP.
Description
2024