Abstract
Presentation Description :
In the investigation of rare disorders like albinism, global collaboration is essential for enhancing genotype-phenotype studies. This talk will explore the role of international cooperation in accelerating developments in the diagnosis and understanding of genotype-phenotype correlations within albinism. Specific emphasis will be placed on navigating through differential diagnoses, and identifying key characteristics imperative for precise diagnosis. Through the work of the Foveal Development Investigators Group (FDIG), we have carefully delineated the phenotypic spectrum for non-syndromic and syndromic forms of albinism and related disorders. This presentation will further explore the implications of these findings from a retinal development and clinical perspective.
This abstract was presented at the 2024 ARVO Annual Meeting, held in Seattle, WA, May 5-9, 2024.