Psychosocial Impacts of Mendelian Eye Conditions: A Systematic Literature Review

Abstract The diagnosis of a heritable (Mendelian) eye condition can have a significant impact on patients and their families. Although a diverse group of conditions, many Mendelian eye conditions are early-onset, untreatable, progressive, and result in significant visual disability. To increase understanding of the challenges facing this population, we review studies describing the psychosocial impacts of Mendelian eye conditions. Reduced mental health and quality of life, and increased strain on relationships are common themes. We synthesize the evidence presented in this review to propose an overall model of illness factors, cultural factors, psychosocial impacts, and quality of life. Finally, we discuss implications for patient management and future research directions.