- Various phenotypic expressions with multiorgan dysgenesis
- Most common abnormalities involve the following systems/organs:
- cardiac
- craniofacial
- thymus
- parathyroid
- Anterior segment
- Posterior embryotoxon (15%)
- Sclerocornea
- Peters anomaly
- Iris remnants
- Cataracts
- Uveitis
- Colobomas
- Anterior segment dysgenesis
- Posterior segment
- Tortuous retinal vessels (24%)
- Optic Disc abnormalities (hypoplastic, hyperpigmented, small or tilted, excavated) (9%)
- 22q11.2 may be an additional genetic locus for familial exudative vitreoretinopathy
- Globe
- Microphthalmia with or without orbital cyst- rare
- Persistent fetal vasculature- rare
- External, Orbit, Vision
- Strabismus (10%) / Amblyopia (6%)
- Eyelid abnormalities
- Epicanthus (4%)
- Ptosis (3%)
- Distichiasis
- Dacryostenosis (3%)
Fundus Vascular Tortuosity and Optic Nerve anomaly in teenager with DiGeorge
- Renal, endocrine, immunologic, and psychiatric problems
- Partial deletion of the long arm of chromosome 22 (deletion 22q11.2)
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