Investigating Visual Pathway Defects in Albinism through Precision Medicine and Advanced Imaging Techniques (360G-Wellcome-342861_Z_25_Z)

Albinism is an inherited condition characterized by hypopigmentation, visual impairment, and nystagmus, with a prevalence of approximately 1 in 12,000 in European populations. Beyond visual challenges, people with albinism (PwA) often experience stigma and psychosocial difficulties, which can negatively affect wellbeing. Emerging evidence suggests a potential genetic predisposition to mental health conditions in PwA, possibly linked to dopamine system dysregulation. There is a critical gap in UK-based studies exploring psychological impacts and support needs for PwA. This project aims to address this gap through three integrated components: Systematic review to synthesize current evidence on wellbeing and quality of life (QoL) in PwA. Quantitative analysis using UK Biobank data to conduct a phenome-wide association study (PHeWAS) of genetic variants linked to albinism, focusing on neuropsychiatric and QoL phenotypes. Qualitative interviews with UK adults with albinism to explore lived experiences, coping strategies, and sources of support. Findings will inform evidence-based interventions to improve psychological wellbeing and QoL in PwA, with future research exploring causal mechanisms through Mendelian Randomisation.