Abstract
Presentation Description :
Albinism is a rare genetic condition associated with mutations in at least 22 genes. Traditionally, albinism has been investigated as a dermatological disease with additional alterations in the visual system. However, in recent years it has become apparent that the ophthalmological alterations of albinism are diagnostic and present in all types of albinism, whereas the hypopigmentation features are not. In order to advance in our understanding of albinism we have generated numerous animal models, using CRISPR-Cas9 genome editing tools in mice, which are representative of several types of albinism. These mouse models have been instrumental to study these different forms of albinism and as an experimental model where to develop and test future therapeutic interventions. We have been creating avatar mouse models, carrying patient-specific mutations previously genetically diagnosed in our cohort of Spanish families. Some of these mutations have been reproduced in the corresponding homologous genes of the mouse genome, thereby creating these avatar mice. In this presentation we will update on our progress investigating several common forms of albinism, including oculocutaneous albinism type 1 (OCA1), ocular albinism (OA1) and the FHONDA syndrome, associated with mutations in the TYR, GPR143 and SLC38A8 genes, respectively. The resulting mouse models have been phenotyped using a variety of methods and experimental approaches, at the structural and functional levels.
This abstract was presented at the 2024 ARVO Annual Meeting, held in Seattle, WA, May 5-9, 2024.