The Concept, Epidemiology, Clinical Features and Diagnosis of Mucopolysaccharidosis

Abstract

In the group of genetic diseases known as mucopolysaccharidoses, there are seven types and thirteen subgroups, each of which is characterized by an innate deficiency of enzymes responsible for the degradation of glycosaminoglycans. Improper cleavage of GAG products leads to their accumulation in the lysosomes of many organs, such as the skeleton, eye, nerves, respiration, heart, gastrointestinal tract and eyes. From minor systemic and ocular abnormalities during normal life expectancy to a severe phenotype that leads to death in the first months of life. Additional disorders of physical and cognitive functions are caused by lesions of the optic nerve, corneal opacity and retinopathy. Treatment methods such as enzyme replacement therapy and bone marrow transplantation improve the life expectancy and quality of life of patients. Keratoplasty can help patients with severe corneal opacity. Factors such as the motivation of the patient and their loved ones, other systemic damage, and concerns about anesthesia play an important role in the decision to perform keratoplasty. The preoperative consultation should be detailed to discuss the expected vision results if you have other concomitant eye diseases or postoperative complications such as glaucoma, recurrent opacity or graft rejection. Perhaps future treatments such as targeted gene therapy and substrate repair therapy will be able to prevent corneal opacification and minimize the need for corneal transplantation. Human trials are needed to confirm that these treatments work, as they are still at an experimental stage.