Seeing the unseen: Photography for deep phenotyping in undiagnosed rare diseases

Purpose This study evaluates a patient-centered photography project aimed to enhance phenotypic characterization, assess caregiver quality of life, and foster public awareness for undiagnosed rare diseases. Methods Twenty patients with complex, undiagnosed conditions at Seoul National University Hospital were enrolled. Photography sessions captured natural facial expressions and typical body postures in everyday context. Caregivers completed the WHOQOL-BREF questionnaire. The resulting images were used in expert diagnostic forums and shared through public media. Results The cohort exhibited high medical complexity and early symptom onset with a median of 2 weeks. Caregivers reported significantly reduced QOL, with the physical domain and psychological domain scoring lower than caregivers of known neurodevelopmental disorders or chronic diseases. Qualitatively, families valued the sessions as meaningful emotional milestones beyond clinical documentation. Following the project, 17 news articles were generated, enhancing social inclusion and public understanding of the diagnostic odyssey. In addition, four patients received new diagnoses of genetic diseases, including RNU2-2 and RNU5B-1 . Conclusion Patient-centered professional photography serves as a high-impact, low-risk intervention in rare disease care. By capturing real-life phenotypes, it facilitates expert collaboration and hypothesis generation while providing essential psychosocial support to families. This integrated approach extends the impact of undiagnosed disease programs beyond traditional genomics, addressing the emotional, identity-related, and societal dimensions of living with a rare condition.