Although glycogen has been reported previously in mural cells of the retinal vessels3 with generalized glycogenosis, the present case is the first comprehensive description of the ocular changes in this disease.
Report of Case *
—The patient was a 5-month-old female infant on the pediatric service of l'Hôpital Saint-Pierre (Prof. R. Dubois). The presenting symptoms were dyspnea, perioral cyanosis, and palpebral edema for one month. One sister had developed symptoms similar to those of the patient and had died at the age of four months.The present patient's previous history had not been unusual. She was born at full term without incident. Physical development was normal to the age of four months.On admission the patient was 63 cm (2 ft) in length and weighed 5.9 kg (13 lb). She was listless, with generalized hypotonia; her skin was pale and swollen; she was dyspneic with a circumscribed perioral
TOUSSAINT D, DANIS P. Ocular Histopathology in Generalized Glycogenosis (Pompe's Disease). Arch Ophthalmol. 1965;73(3):342-349. doi:10.1001/archopht.1965.00970030344009