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Mucopolysaccharidoses (MPS) are a group of hereditary storage diseases secondary to deficiencies of lysosomal enzymes. MPS type IV is known as Morquio syndrome.1 In “classic” or type A Morquio syndrome the deficient enzyme is N-acetylgalactosamine-6-sulphate-sulphatase.2 Morquio syndrome has been associated with cataract,3 optic atrophy,4 tapetoretinal pigmentary degeneration,4,5 and corneal clouding.4,6–8 We report a case of type A Morquio syndrome with electron microscopic findings.
A 38 year old man was referred for consideration of left corneal grafting for progressive corneal haziness of several years’ duration. He was diagnosed with Morquio syndrome in childhood on the basis of severe growth retardation, skeletal dysplasia, and facial dysmorphism. Subsequently, a diagnosis of type A Morquio syndrome was confirmed on enzyme assay of skin fibroblasts. On examination visual acuities were 6/12 right eye and 6/18 left eye. There was bilateral corneal oedema and stromal haze, greater on the left, precluding fundal examination. His intraocular pressures were normal and his angles, although poorly visualised, appeared open.
Following an uneventful left penetrating keratoplasty the host cornea was examined by light, transmission and scanning electron microscopy.
On light microscopy, the basal cells of the epithelium were swollen as a result of oedema but both the …
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