People with two working copies of the gene are unaffected. People with one working copy are genetic carriers of Maroteaux-Lamy Syndrome. They have no symptoms but may pass down the defective gene to their children. People with two defective copies will have MPS-VI. Diagnosis
A urinalysis will show elevated levels of dermatan sulfate in the urine. A blood sample may be taken to assess the level of ASRB activity. Dermal fibroblast cells may also be examined for ASRB activity. Molecular genetic testing can give information about the specific mutation causing MPS-VI, but it is only available at specialized laboratories. Treatment
The treatment of Maroteaux–Lamy syndrome is symptomatic and individually tailored. A variety of specialists may be needed. In 2005, the FDA approved the orphan drug galsulfase (Naglazyme) for the treatment of Maroteaux–Lamy syndrome. Galsulfase is an enzyme replacement therapy (ERT) in which the missing ASRB enzyme is replaced with a recombinant version.In addition to ERT, various procedures can alleviate the symptoms of MPS-VI. Surgery may be necessary to treat abnormalities such as carpal tunnel syndrome, skeletal malformations, spinal cord compression, hip degeneration, and hernias. Some patients may need heart valve replacement. It may be necessary to remove the tonsils and/or adenoids. Severe tracheomalacia may require surgery. Physical therapy and exercise may improve joint stiffness.Hydrocephalus may be treated by the insertion of a shunt to drain excess cerebrospinal fluid. A corneal transplantation can be performed for individuals with severe corneal clouding.
The sclera is perforated by many nerves and vessels passing through the posterior scleral foramen, the hole that is formed by the optic nerve. At the optic disc the outer two-thirds of the sclera continues with the dura mater (outer coat of the brain) via the dural sheath of the optic nerve. The inner third joins with some choroidal tissue to form a plate (lamina cribrosa) across the optic nerve with perforations through which the optic fibers (fasciculi) pass. The thickness of the sclera varies from 1 mm at the posterior pole to 0.3 mm just behind the rectus muscle insertions. The scleras blood vessels are mainly on the surface. Along with the vessels of the conjunctiva (which is a thin layer covering the sclera), those in the episclera render the inflamed eye bright red.In many vertebrates, the sclera is reinforced with plates of cartilage or bone, together forming a circular structure called the sclerotic ring. In primitive fish, this ring consists of four plates, but the number is lower in many living ray-finned fishes, and much higher in lobe-finned fishes, various reptiles, and birds. The ring has disappeared in many groups, including living amphibians, some reptiles and fish, and all mammals.The eyes of all non-human primates are dark with small, barely visible sclera. Histology
The collagen of the sclera is continuous with the cornea.