Structural changes of the cornea in a patient with mucopolysaccharidosis (Hurler‐ Scheie) in confocal microscopy images

Abstract

AbstractPurpose To determine the characteristic structural corneal changes in a 22 years old patient with Hurler Scheie syndrome using confocal microscopy in vivo.Methods The study was conducted in 22 year old man with Hurler syndrome. The patient presents typical phenotype of this syndrome. Additionally the symptoms reduced by enzymatic treatment confirms the diagnosis of disease. Slit lamp examination, corneal scans using the Scheimpflug camera (Pentacam, OCULUS) and corneal confocal microscopy in vivo (Rostock Cornea Module, Heidelberg Engineering Retina Tomograph III) were performed.Results In all performed examinations the edema and loss of transparency of the cornea have been documented, but the characteristic structural changes were only demonstrated in in vivo confocal microscopy images. Abnormalities in microscopic images were described in all layers of the cornea. The tear film was found containing numerous non‐characteristic inclusions, as well as in the epithelial layer. The most common change was found in front part of corneal stroma ‐ a system of highly hyperreflected, stimulated, vacuolisated keratocytes of "honeycomb‐like" structure and a very sparse amount of stromal matrix. Posterior stroma appeared non‐characteristic hazes, presence of scarring and corrugations up to Descemet’s membrane. Due to the thickness of the cornea more than 1000 microns, it was impossible to image the endothelium.Conclusion Corneal confocal microscopy in vivo, is a useful tool in the diagnosis of corneal opacities in the course of MPS Hurler. By characteristic structural features, it can be used for confirming the diagnosis.