Children with mucopolysaccharidosis risk progressive visual dysfunction despite haematopoietic stem cell transplants. (23rd May 2018) - Teär Fahnehjelm, Kristina
Abstract: Aim: This prospective study assessed the long‐term ocular and visual outcomes of children with mucopolysaccharidoses type I Hurler syndrome (MPS IH) who were treated with haematopoietic stem cell transplants (HSCT). Methods: Clinical ophthalmological assessments were performed on eight patients at the St Erik Eye Hospital, Huddinge, Stockholm, Sweden, from 2001–2018: The median age at diagnosis and HSCT were 12.2 (range 5.0–16.4) and 16.7 (8.0–20.4) months. The last eye examination was at a median of 13.4 (6.3–19.0) years and follow‐up lasted a median of 12.0 (5.0–17.4) years. Results: Poor visual acuity, poor night vision and, or, photophobia were reported by six children. The best corrected visual acuity at the last visit was a median of 0.4 and 0.5 in the right and left eye and had declined significantly in two patients. Corneal opacities had increased despite HSCT in five patients. High hyperopia, at a median of +6 Dioptres, occurred in all patients and stiff corneas in all four patients that were measured. The patients' corrected intraocular pressures were normal. Retinal degeneration was identified in two patients. Conclusion: Despite HSCT, the long‐term follow‐up of patients with MPS IH showed reduced visual acuity due to corneal opacities or retinal degeneration.