THE PURPOSE of this paper is to present, for the first time, the ocular pathological manifestations of infantile or type 1 GM1-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
GM1-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 GM1-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
Emery JM, Green WR, Wyllie RG, Howell RR. GM1-GangliosidosisOcular and Pathological Manifestations. Arch Ophthalmol. 1971;85(2):177-187. doi:10.1001/archopht.1971.00990050179011