PURPOSE: To present a case of Maroteaux-Lamy syndrome (MLS, mucopolysaccharidosis [MPS] type VI) who underwent bone marrow transplantation (BMT) for gene transfer at the age of 13, and penetrating keratoplasty at the age of 17, and maintained clear corneal grafts bilaterally for 13 years. To our knowledge, this is the longest follow-up reported on corneal graft survival in a patient with MLS and BMT. METHODS: In 1982, BMT was successfully performed on a 13-year-old girl with MLS with growth retardation, typical facial features, skeletal and joint deformities, hepatosplenomegaly, cardiopulmonary dysfunction, and corneal clouding. Corneal transplantation was done on the left eye in 1986, and on the right eye in 1987 (6 months later) without difficulty or complication. RESULTS: Thirteen years postoperatively, the patient was systemically well, and both eyes retained clear corneal grafts. CONCLUSION: BMT retarded further dysfunction from MLS, and the corneal transplants retained clarity. Further controlled studies with longer follow-up are required to establish the efficacy of BMT in ocular manifestations of MPS or MLS.
PURPOSE: To present a case of Maroteaux-Lamy syndrome (MLS, mucopolysaccharidosis [MPS] type VI) who underwent bone marrow transplantation (BMT) for gene transfer at the age of 13, and penetrating keratoplasty at the age of 17, and maintained clear corneal grafts bilaterally for 13 years. To our knowledge, this is the longest follow-up reported on corneal graft survival in a patient with MLS and BMT. METHODS: In 1982, BMT was successfully performed on a 13-year-old girl with MLS with growth retardation, typical facial features, skeletal and joint deformities, hepatosplenomegaly, cardiopulmonary dysfunction, and corneal clouding. Corneal transplantation was done on the left eye in 1986, and on the right eye in 1987 (6 months later) without difficulty or complication. RESULTS: Thirteen years postoperatively, the patient was systemically well, and both eyes retained clear corneal grafts. CONCLUSION: BMT retarded further dysfunction from MLS, and the corneal transplants retained clarity. Further controlled studies with longer follow-up are required to establish the efficacy of BMT in ocular manifestations of MPS or MLS.