Experiences of Individuals Adjusting to a Recent Diagnosis of Autosomal Dominant Retinitis Pigmentosa

摘要

Retinitis pigmentosa (RP) refers to a group of heritable ocular disorders involving progressive retinal degeneration and irreversible vision loss. There is no known cure. The autosomal dominant (AD) type has variable penetrance and a typically mid-life onset. Individuals with ADRP have unique psychosocial needs due to the negative psychological outcomes and major mid-life changes that result from progressive vision loss. Research has mainly focused on psychological experiences of individuals with age-related vision loss. No studies have targeted experiences with ADRP. The present study sought to explore the experiences of adults recently diagnosed with ADRP and determine factors that affect adjustment to the condition. A multi-part survey examined genetics knowledge, coping, and quality of life, and explored adjustment experiences through open-ended questions. Quality of life decreased after diagnosis but was recovered somewhat by six months. Individuals were grouped by coping methods and genetics knowledge and compared. No significant difference in quality of life was found between coping groups in any time period. Quality of life was significantly different between genetics knowledge groups in only a few areas. Qualitative analysis revealed that individuals experience many emotions after diagnosis and cope with the effects of progressive vision loss in many ways. These results reinforce the importance of exploring the emotions and experiences of individuals with ADRP during the genetic counseling session, recognizing that every individual has a unique experience. Identifying factors that affect adjustment will allow for more informed counseling of this population and aid in meeting the needs of each individual, ultimately improving quality of life.