Anterior Segment, Corneal and External Disorders
Ocular Features of Treatable Lysosomal Storage Disorders – Fabry Disease, Mucopolysaccharidoses I, II and VI and Gaucher Disease
Ines M Lanzl, Bart P Leroy
Lysosomal storage disorders (LSDs) are a group of more than 50 inheritable disorders.1,2 Although individually rare, they collectively affect approximately one in 5,000 live births.3 Defective metabolism of proteins, carbohydrates or lipids resulting from deficiency of one of the many lysosomal enzymes leads to pathological accumulation of substances within the lysosomes. This lysosomal accumulation triggers […]