Hunter's syndrome and buphthalmos in a girl: an unusual ophthalmic association

Abstract

Abstract Purpose To report an unusual ophthalmic presentation of a case of Hunter's syndrome/MPS II. Methods A sixteen‐year‐old girl presented to us with total loss of vision and forward protrusion OU since early childhood. Detailed examination, including slit lamp biomicroscopy, Intra ocular pressure (IOP) and fundoscopy was carried out. Thorough systemic evaluation including Computed Tomography (CT), metabolic and genetic analysis was undertaken in collaboration with internists. Results Characteristic facies, detection of glycosaminoglycan (GAG) variants in urine (chondroitin sulfate B and heparin sulfate) and iduronate‐2‐sulphatase activity in fibroblasts/leucocytes confirmed the diagnosis of MPS II. Child had severe photophobia but with no perception of light OU. OU buphthalmos with Haab's striae was noted, making a clear view of the fundus difficult. IOP OU was elevated, and 90D slit lamp biomicroscopy revealed a total glaucomatous optic atrophy in both eyes.On CT there was thickening and edema of preseptal and periorbital soft tissue with marked thinning of the optic nerves with prominent perineural CSF sleeves, indicative of marked optic atrophy. Conclusion Glaucoma is a known association of Hurler's, Scheie's and Maroteaux‐Lamy syndromes but not Hunter's. In fact, there is only one report of suspected angle closure glaucoma in MPS II. Buphthalmos is not a likely presentation as the sclera in these patients is known to be thickened due to deposition of GAG. To the best of our knowledge, this is the first case report of buphthalmos in association with MPS II. The importance of a meticulous examination in this subset of patients cannot be overemphasised. An appropriate and timely intervention may result in a better quality of life for them.