Longitudinal Analysis of Ocular Disease in Children with Mucopolysaccharidosis I after Hematopoietic Cell Transplantation.

Corneal clouding, causing visual impairment, is seen in nearly all patients with mucopolysaccharidosis type 1 (MPS-1). Hematopoietic cell transplantation (HCT) is able to stabilize disease in many organs. Residual disease in several tissues is being increasingly recognized, however. Data on the effect of HCT on ocular disease in patients with MPS-1 are contradictory. With this study, we aim to clarify the long-term effects of HCT on ocular disease in these patients. Best corrected visual acuity (BCVA), refraction, intraocular pressure (IOP), and slit-lamp biomicroscopic and fundoscopic examinations, including corneal clouding, were collected prospectively from 24 patients with MPS-1 who underwent HCT successfully between 2003 and 2018 (92% with >95% chimerism and normal enzyme activity after HCT). The course of corneal clouding and BCVA after HCT were analyzed using a linear mixed model. Other parameters studied were clinical phenotype, age at time of transplantation, and hematologic enzyme activity after transplantation. Outcomes of additional ophthalmologic tests were described. In addition, IDUA and α-galactosidase A (AGAL) enzyme activity and glycosaminoglycan (GAG) concentration in tear fluid were determined. Corneal clouding stabilized in the first years after HCT but increased rapidly beyond 3 years (P < .0001). BCVA and IOP also worsened over time (P = .01 and P < .0001, respectively). IDUA activity in tear fluid remained very low (P < .0001). After initial stabilization in the cornea, ongoing ocular disease and low IDUA activity in tear fluid is seen in patients with MPS-1 despite treatment with HCT, unveiling a weak spot of current standard therapy. New therapies that overcome these shortcomings are needed to improve the late outcomes of patients.

DSAEK: practical approach to choose the microkeratome head on the basis of donor cornea pachymetry.

PURPOSE: The aim of this study was to supply data on the relationship between Descemet stripping automated endothelial keratoplasty (DSAEK) graft thickness and its effects on visual acuity (VA), pace of visual recovery, endothelial cell densities (ECDs), and surgical complications. We additionally provide an approach for choosing the microkeratome blade thickness when multiple patients are scheduled for DSAEK. METHODS: This is a retrospective analysis of all DSAEK procedures performed at our institute from January 2011 to December 2012. The VA was assessed at all postop visits. The ECD was assessed at 6 and 12 months postoperatively. An algorithm based on donor cornea pachymetry was used to assist in the choice of a microkeratome blade either 350 or 400 µm thick. Two groups were created on the basis of the microkeratome blade chosen. Outcomes were given per treatment group. RESULTS: One hundred two consecutive DSAEK procedures were performed; 60 grafts were prepared with the 350-µm blade and 39 with the 400-µm blade. Baseline characteristics did not differ materially. Grafts dissected using the 350-µm knife were significantly thicker than the grafts dissected with the 400-µm blade, with values of 257 ± 47 µm and 222 ± 33 µm, respectively (P = 0.01). The pace of visual recovery, VA at maximum follow-up, and ECD did not differ significantly between groups. Surgical complications were evenly distributed over both groups. CONCLUSIONS: This study indicates that using neither the 350-µm nor 400-µm microkeratome blade for the DSAEK altered the outcomes in terms of VA, ECD, and surgical complications. The algorithm presented in this study is helpful in equally distributing benefits from thinner grafting for all DSAEK-operated patients.