LETTER

Morquio syndrome: electron microscopic findings

T Leslie¹, M A R Siddiqui¹, D A Aitken², C M Kirkness², W R Lee² and A I Fern³

¹ Department of Ophthalmology, Grampian University Teaching Hospitals, Aberdeen, UK
² Department of Ophthalmology, Gartnavel General Hospital, Glasgow, UK
³ Department of Ophthalmology, Hairmyres General Hospital, East Kilbride, UK

Correspondence to:
Correspondence to:
T Leslie
Department of Ophthalmology, Grampian University Teaching Hospitals, Aberdeen AB25 2ZN, UK; thorfinnleslie@hotmail.com

Accepted 12 November 2004

Keywords: Morquio syndrome

The first 150 words of the full text of this article appear below.

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 . . . [Full text of this article]

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