Anterior segment optical coherence tomography and in vivo confocal microscopy in cases of mucopolysaccharidosis

PURPOSE: To report anterior segment evaluation in patients with mucopolysaccharidosis 1 using anterior segment optical coherence tomography and in vivo confocal microscopy. OBSERVATIONS: Case 1 involved a 26-year-old man with mucopolysaccharidosis 1 Hurler–Scheie syndrome who presented with a corrected distance visual acuity of 20/67 in the right eye and 20/50 in the left eye because of bilateral corneal opacification. He had undergone bone marrow transplantation at the age of 7 years. Anterior segment optical coherence tomography revealed a very narrow anterior chamber angle; a flat, thickened cornea; and astigmatism with the rule. Confocal microscopy demonstrated hyper-refractive deposits in the corneal epithelial basal layer, decreased subepithelial nerves, and depletion of keratocytes in the anterior and posterior stroma. Endothelial cells were not visible. Case 2 involved an 18-year-old woman who presented with increased corneal opacity in both eyes. Her medical history included mucopolysaccharidosis 1 Hurler syndrome and bone marrow transplantation at the age of 2 years. Her corrected distance visual acuity could not be measured because of severe intellectual disability. Anterior segment optical coherence tomography demonstrated a flat and thick cornea. CONCLUSIONS AND IMPORTANCE: Anterior segment optical coherence tomography can provide detailed morphological information for the anterior segment in patients with severe corneal opacification associated with mucopolysaccharidosis 1. Moreover, in vivo confocal microscopy facilitates the detailed observation of corneal cellular changes. Thus, these tools can provide data that would contribute to an increased understanding of corneal changes in patients with mucopolysaccharidosis 1.