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Table 1 Clinical features of the patient related with DiGeorge syndrome and Glycogen Storage Disease Ia

From: Cataract and optic disk drusen in a patient with glycogenosis and di George syndrome: clinical and molecular report

 

SYSTEMIC CHANGES

OCULAR CHANGES

GSD IA

hepatomegaly, short stature, hypotonia

peripheral punctate opacities of the lens

DGS

cleft lip and palate, dental enamel hypoplasia, hypoparathyroidism, intellectual disability

subcapsular cataract, retinal vascular tortuosity, eyelid hooding, strabismus, and astigmatism