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Ocular and Pathological Manifestations

Jared M. Emery, MD; William R. Green, MD; Robert G. Wyllie, MB, BS; R. Rodney Howell, MD

Arch Ophthalmol. 1971;85(2):177-187.

	Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings.

THE PURPOSE of this paper is to present, for the first time, the ocular pathological manifestations of infantile or type 1 G_M1-gangliosidosis (also known as generalized gangliosidosis). In addition, the clinical aspects of this disease will be discussed, since it has important ocular manifestations, but has received only one brief mention in the ophthalmic literature.¹

G_M1-gangliosidosis is one of the inborn errors of metabolism, associated with the abnormal storage of two substances, one a ganglioside, and the other a mucopolysaccharide. More than 20 established cases now appear in the literature.^2-15 In none of these were the eyes examined histopathologically.

The earliest well-documented reports of G_M1-gangliosidosis appeared in 1959,^2,3 followed by seven cases in 1964.⁵ However, it was not until 1965 that a storage substance was identified as a ganglioside by O'Brien et al.⁶ An abnormally high accumulation of the ganglioside was . . . [Full Text PDF of this Article]

Author Affiliations
Baltimore

From the Eye Pathology Laboratory of the Wilmer Ophthalmological Institute (Drs. Emery and Green), and the departments of pathology (Drs. Green and Wyllie) and pediatrics (Dr. Howell), the Johns Hopkins Hospital and School of Medicine, Baltimore.

Footnotes
Submitted for publication July 13, 1970.

Read before the 28th annual meeting of the Wilmer Residents Association, Baltimore, April 25, 1969.

Reprint requests to Eye Pathology Laboratory, the Johns Hopkins Hospital, Baltimore 21205 (Dr. Emery).

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