Ocular Changes of Glycogen Storage Disease Type I

Abstract

The glucose-6-phosphatase system comprises at least five different polypeptides and plays a key role in the metabolism of glucose. A defect in these proteins may cause glycogen storage disease type I (GSD I). We examined the ocular changes of two patients with GSD la and b. The patient with GSD lb showed a delayed appearance of the choroidal flush on fluorescein angiography, a subnormal Arden ratio by electrooculography and atrophy of the retinal pigment epithelium and choriocapillaris. The patient with GSD typ I a showed a gradual attenuation of the b-wave by electroretinography. These findings appeared similar to those observed with enzyme distribution among ocular tissue reported previously. To our knowledge, the findings described herein represent the first report of ocular changes associated with GSD I.

The significance of opthalmologic evaluation in the early diagnosis of inborn errors of metabolism: the Cretan experience

“…Our ocular finding in glycogenosis type 1b may be correlated with ocular findings reported by other authors for this disease. [25]. …”