Corneal Transplantation In Mucopolysaccharidoses (Mps): A Twenty Year Experience At A Tertiary Referral Hospital

Mucopolysaccharidoses (MPS) are a group of rare lysosomal stromal disorders resulting in many systemic and ocular manifestations, of which, corneal clouding is most common and leads to reduction in visual acuity. The purpose of the study was to assess long-term management of visual impairment in patients with MPS.

Moorfields Eye Hospital: a tertiary National Health Service (NHS) referral centre in London

We conducted a retrospective case series using the patient electronic records. MPS patients were identified and  demographic details, type of MPS, ocular and systemic co-morbidities, genetic studies, surgical interventions, histology reports of corneas and visual acuities before and after any intervention were recorded.

17 patients over a period of 20 years were identified. There were 9 males (53%) and 8 females (47%). Three patients (six eyes) underwent corneal transplantation. Patient number 1 had bilateral deep anterior lamellar keratoplasty (DALK) with improved postoperative visual acuity (20/40 in both eyes). Patient number 2 underwent a DALK after successful big-bubble type 1 technique, but intraoperatively, a decision was made to convert to a penetrating keratoplasty (PK) given macroscopic findings of presence of MPS in pre-descemet’s membrane (DM) and the endothelium. Histology analysis confirmed MPS in DM and evidenced decreasing endothelial cells. The third patient underwent bilateral DALKs, one of which failed, resulting in a secondary PK.

MPS is a rare condition which in most cases could be monitored without need for surgical input. Despite DALK being considered the gold standard in these eyes, we present evidence of MPS within DM and endothelium. In these circumstances, intraoperative conversion from DALK to PK would be necessary to allow for optimum visual outcomes.