Morquio syndrome: electron microscopic findings
- T Leslie1,
- M A R Siddiqui1,
- D A Aitken2,
- C M Kirkness2,
- W R Lee2,
- A I Fern3
- 1Department of Ophthalmology, Grampian University Teaching Hospitals, Aberdeen, UK
- 2Department of Ophthalmology, Gartnavel General Hospital, Glasgow, UK
- 3Department of Ophthalmology, Hairmyres General Hospital, East Kilbride, UK
- Correspondence to: T Leslie Department of Ophthalmology, Grampian University Teaching Hospitals, Aberdeen AB25 2ZN, UK; thorfinnlesliehotmail.com
- Accepted 12 November 2004
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.
Case report
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 …
