Cerliponase Alfa For The Treatment Of Cln2 Disease In A Patient Cohort Including Children Younger Than Three Years: Interim Results From An Ongoing Clinical Study

To evaluate the anterior chamber angle status and estimate the intraocular pressure (IOP) in patients with mucopolysaccharidoses (MPSs) type I, II, IV, and VI.Prospective cross-sectional study.This study enrolled 27 consecutive MPS patients (8 patients with MPS I, 4 patients with MPS II, 9 patients with MPS IV, and 6 patients with MPS VI) and 20 normal control subjects. Anterior chamber angle status was evaluated by swept-source optical coherence tomography and IOP was estimated by the new-generation tonometer Corvis ST.Twelve eyes (6 patients) of 15 eyes (8 patients) with MPS I had narrow angles or peripheral iridocorneal touches together with elevated IOP (80%). Six eyes (3 patients) of 8 eyes (4 patients) with MPS II had plateau iris configuration, but all 8 eyes had normal IOP. All 18 eyes (9 patients) with MPS IV had normal angle structures, but 8 eyes (4 patients) had elevated IOP (44.4%). Nine eyes (5 patients) of 11 eyes (6 patients) with MPS VI had shallow but not closed angles (81.8%). Among these 9 eyes, 5 eyes had elevated IOP, and 4 of these 5 eyes had IOP >30 mm Hg. The trabecular iris angles of MPS types I, II, and VI were smaller than those of MPS type IV and of the control subjects. The angle recess areas of MPS types I and VI were smaller than those of MPS type IV and of the control subjects.MPS type I patients are prone to have glaucoma with narrow or closed angles; MPS type II patients tend to have plateau iris; MPS type IV patients are vulnerable to open-angle glaucoma; MPS type VI patients have narrow angles not as close as those of MPS type I. MPS types I, IV, and VI had higher IOP estimates than the control subjects, but only MPS I and IV had higher corrected IOP estimates than the control subjects. The ordinary IOP estimates in MPS VI patients may be falsely high because of clouded corneas and increased corneal rigidity. Swept-source optical coherence tomography helps ophthalmologist investigate the angle structure and the pathophysiology of glaucoma caused by MPS.