Our current understanding of clinical characteristics and the genetics of patients with albinism

Abstract

ABSTRACT Introduction Albinism is a heterogenous disease with variable phenotypic and genotypic presentations. Diagnosis can be challenging and clinical evaluation strategies vary. Areas covered This review examines the phenotypic and genotypic characteristics of albinism and discusses evaluation strategies used to assess its variable clinical presentations. Additionally, it explores the challenges faced by clinicians in diagnosing albinism and issues related to genetic testing, interpretation and subsequent counseling of affected patients and their families. It is important to note that although current management of albinism is mainly supportive and focuses on optimizing vision, there are emerging therapies with promising translational benefit. Expert opinion Ongoing research in the field of albinism is benefiting from recent advances, particularly in retinal imaging and phenotyping. Similarly, access to advanced technologies like next-generation and long-read sequencing has improved diagnostic accuracy for previous cases with missing heritability. Deeper genotyping and phenotyping as well as multicentre collaborative approaches have allowed better understanding of genotype-phenotype correlations. There is still a need for more research on the psychosocial aspects of albinism. Encouraging involvement of patients and the public in determining research priorities in this area is essential for a better understanding of the psychosocial impact on individuals with albinism.