Exploring the human experience of congenital aniridia: A narrative medicine approach

Purpose: To explore the emotional and social burden of congenital aniridia in patients and caregivers through narrative medicine. Methods: Patients with congenital aniridia and their caregivers were enrolled in a multicentric observational study. Sociodemographic data and personal narratives were collected through interviews or written accounts. A qualitative analysis was conducted and overarching themes identified. Results: A total of 57 narratives were collected (31 patients, 27 caregivers). Participants reported visiting an average of 5.1 ± 5.9 healthcare facilities over their lifetime. Aniridia impacted work or school life in 39% of patients and 58% of caregivers. Most narratives focused on the lived experience of illness (95% patients, 81% caregivers) or on social perception (48% and 46%), rather than on clinical aspects (10% and 23%). Adaptation to the disease was mainly stable or progressive among adults. Emerging themes included independence, feeling misunderstood, and bullying. Caregivers emphasized the lack of specialized centers, standardized protocols, adequately trained professionals, psychological and practical support, and the lack of humanity among doctors. Conclusions: Congenital aniridia leads to progressive visual impairment with significant emotional and social consequences. Narrative medicine offers valuable insight into patients’ and caregivers’ lived experiences, highlighting unmet needs and concerns often overlooked in conventional clinical practice.