Ocular changes of glycogen storage disease type I

T. Abe, M. Tamai

研究成果: Article査読

5 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)92-95
ページ数4
ジャーナルOphthalmologica
209
2
DOI
出版ステータスPublished - 1995

ASJC Scopus subject areas

  • 眼科学
  • 感覚系

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