Ocular perspective of mucopolysaccharidosis

A hereditary condition known as mucopolysaccharidosis is characterized by a lack of enzymes necessary for the breakdown of glycosaminoglycans (GAGs). GAG is improperly broken down, resulting in extensive lysosomal buildup throughout the different organs. From minor systemic and ocular involvement to a severe phenotype that can be lethal even in the few months of life, the clinical spectrum varies. Physical and cognitive skills are further hampered by visual impairment brought on by corneal clouding, retinopathy, and optic nerve involvement. Enzyme replacement therapy and bone marrow transplants are two examples of treatment methods that help patients live longer and better lives. The preferred course of treatment for people with visibly significant corneal clouding is keratoplasty. A thorough preoperative evaluation and patient counseling regarding the anticipated visual outcomes as well as postoperative complications such as graft re-opacification, rejection, and glaucoma should be conducted. Future therapies such as substrate reduction therapy and targeted gene therapy may be able to reverse corneal clouding. These therapeutic approaches are still in the testing phase.