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 Ia and b. The patient with GSD Ib 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 type 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.
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