Ana-Maria DANILĂ, Alin Stelian CIOBÎCĂ
ABSTRACT :
Albinism is a group of rare genetic disorders characterized by reduced or absent melanin production, leading to hypopigmentation of the skin, hair, and eyes, as well as visual impairments. Recent advances in gene therapy have demonstrated the potential to correct the underlying genetic disorders in preclinical models, including murine and large animal models, zebrafish, and human iPSC-derived cells. Strategies such as AAVmediated gene delivery and CRISPR/Cas9 genome editing have successfully restored tyrosinase expression and melanin production, ameliorating the albino phenotype and improving retinal function without significant adverse effects. Emerging approaches using non-viral vectors, nanoparticles, and lipid- or protein-based delivery systems aim to enhance safety and transduction efficiency. Challenges remain in addressing mutation diversity, optimizing vector design, and ensuring timely interventions in order to prevent irreversible retinal degeneration. Future directions include combined AAV and CRISPR strategies, translational studies in large animal models, and earlyphase clinical trials, highlighting the feasibility of personalized gene therapies for albinism and their potential to improve both visual and cutaneous outcomes. Keywords: Albinism; Gene Therapy, CRISPR/Cas9, Adeno-Associated Virus, iPSC, Animal models, Zebrafish.