Inverted eyelashes in patients with type 1a glycogen storage disease

We examined three adult Japanese patients who had a history of decreased hepatic glucose-6-phosphatase activity. All three patients had increased bilateral subcutaneous (SC) fat in the lower eyelids and inverted eyelashes. One patient additionally showed retinal hemorrhages and microaneurysms in both fundi. The inverted eyelashes may have been related to type 1a glycogen storage disease.