Ocular Aspects in Biotinidase Deficiency: Clinical and Genetic Original Studies

The study investigated the ocular aspects of biotinidase deficiency, a metabolic disorder, by examining clinical and genetic data. The research was conducted by a team from the University of Florence, Italy, and focused on understanding how this deficiency affected eye health. The findings highlighted that individuals with biotinidase deficiency could experience various ocular symptoms, which underscored the importance of early diagnosis and treatment to prevent potential vision problems. The study contributed to the broader understanding of the genetic and clinical manifestations of biotinidase deficiency, emphasizing the need for awareness in both ophthalmology and pediatrics.