Retinal Findings in DiGeorge Syndrome
DiGeorge syndrome (22q11.2 deletion syndrome) does not have documented retinal abnormalities as part of its core clinical manifestations, and ophthalmologic evaluation is not included in standard management guidelines for this condition.
Evidence Review
The available clinical guidelines and research on DiGeorge syndrome/22q11.2 deletion syndrome do not identify retinal findings as a recognized feature of this disorder. The comprehensive management guidelines emphasize multidisciplinary surveillance across multiple organ systems, but ophthalmology is mentioned only as an optional specialty consultation based on individual manifestations, not as a routine screening requirement 1, 2.
Core Clinical Manifestations
The well-established phenotypic features of 22q11.2 deletion syndrome include 3, 1:
- Cardiac anomalies (68% of patients): conotruncal defects including tetralogy of Fallot, interrupted aortic arch, truncus arteriosus, and ventricular septal defects 1, 2
- Thymic hypoplasia/aplasia with variable T-cell immunodeficiency 3, 2
- Hypoparathyroidism with hypocalcemia (63% of patients) 1, 2
- Craniofacial abnormalities: cleft palate, velopharyngeal insufficiency, facial dysmorphic features 3, 4
- Neuropsychiatric disorders: developmental delays, learning disabilities, and significantly elevated schizophrenia risk (20-fold increase) 2
Distinction from CHARGE Syndrome
It is critical to distinguish DiGeorge syndrome from CHARGE syndrome, which does include ocular abnormalities as a core feature. CHARGE syndrome (Coloboma, Heart defects, Atresia of nasal choanae, Retardation of growth and development, Genitourinary anomalies, and Ear anomalies) presents with coloboma—a congenital eye defect involving gaps in ocular structures including the retina, choroid, iris, or optic nerve 3. This is fundamentally different from 22q11.2 deletion syndrome.
Clinical Implications
Ophthalmologic screening is not part of routine surveillance protocols for DiGeorge syndrome 1, 2. The coordinated multidisciplinary care structure for these patients prioritizes 1, 2:
- Immunology for immune deficiency management
- Cardiology for congenital heart defects
- Endocrinology for hypoparathyroidism
- Developmental pediatrics for cognitive and behavioral issues
- Genetics for ongoing counseling
- Psychiatry for neuropsychiatric manifestations
Ophthalmology consultation should only be pursued if specific ocular symptoms or findings emerge on clinical examination, not as routine screening 1.
Important Caveat
If a patient presents with both features suggestive of DiGeorge syndrome and retinal abnormalities (particularly coloboma), consider alternative or additional diagnoses including CHARGE syndrome, which has overlapping cardiac and developmental features but distinct genetic etiology (CHD7 gene mutations) 3. Genetic testing should be expanded beyond 22q11.2 FISH analysis in such cases.