Pain in albinism: a narrative review of current evidence, knowledge gaps, and a translational roadmap for research and clinical practice

INTRODUCTION: Albinism is a rare genetic condition associated with visual impairment, photophobia, and skin sensitivity. Pain remains poorly characterized despite its potential impact on daily functioning. AREAS COVERED: This narrative review synthesizes evidence on pain in albinism, identifies clinical and research gaps, and proposes a hypothesis-generating multidimensional framework and translational roadmap. PubMed, Embase, and Web of Science were searched through June 2026, supplemented by Google Scholar and gray literature. The review considers musculoskeletal discomfort, visual strain, psychosocial factors, and putative neurobiological mechanisms. Major gaps include limited direct evidence, lack of longitudinal and mechanistic studies, and absence of validated pain assessment approaches and specific clinical guidance. EXPERT OPINION: Pain in albinism may involve interacting musculoskeletal, sensory-environmental, psychosocial, neurobiological, and healthcare factors. However, much of the proposed rationale derives from research in adjacent populations rather than albinism-specific studies. Priorities include accessible pain assessment, prospective investigation of pain mechanisms and trajectories, evaluation of rehabilitation strategies, and exploration of accessible digital monitoring. The proposed framework requires empirical validation before informing albinism-specific clinical recommendations.