Presence or absence of ocular anomalies in some hereditary skeletal diseases is frequently of decisive importance for the classification of the underlying condition. Biomicroscopy of the cornea in Hurler's disease (gargoylism, lipochondrodystrophy, dysostosis multiplex) reveals in the majority of cases characteristic cloudiness of the cornea. On the other hand, absence of corneal changes, as well as other extraskeletal manifestations of a storage disease in patients with a skeleton somewhat similarly deformed as in Hurler's disease, is considered to be pathognomonic of a different entity, known as Morquio's disease. Occasionally, however, case reports have appeared in the literature in which patients were described in whom in spite of the characteristic findings of Morquio's disease, corneal cloudiness was observed. Since a definite clinicopathological relationship between these forms and the classical appearance of Morquio's disease has not as yet been established, they must at present be considered as a separate clinical entity. Wiedemann
von NOORDEN GK, ZELLWEGER H, PONSETI IV. Ocular Findings in Morquio-Ullrich's Disease: With Report of Two Cases. Arch Ophthalmol. 1960;64(4):585–591. doi:10.1001/archopht.1960.01840010587017
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