22q11.2 deletion syndrome (22q11DS), also known as DiGeorge or velocardiofacial syndrome, may include significant ocular manifestations. Ophthalmic issues are common in individuals with 22q11DS, though their severity can vary significantly. Regular ophthalmologic evaluation is crucial for early detection and management.
One of the most frequently reported ocular findings is retinal vascular tortuosity, where the blood vessels in the retina appear unusually twisted or winding. Posterior embryotoxon, an anterior displacement of Schwalbe's line (a normal anatomical structure in the eye), is also commonly observed.
Other significant eye problems include:
- Strabismus (crossed eyes): This misalignment of the eyes can lead to amblyopia (reduced vision in one eye due to lack of use), which, if left untreated, can result in permanent vision impairment.
- Refractive errors: Nearsightedness (myopia), farsightedness (hyperopia), and astigmatism are common and often require corrective lenses. Hyperopia is particularly prevalent.
- Eyelid abnormalities: These can include eyelid hooding (excess skin over the eyelids) and ptosis (drooping of the upper eyelid).
- Coloboma: This is a defect in the eye structure, such as the iris, retina, or optic nerve, caused by incomplete closure of the optic fissure during development.
- Cataracts: Clouding of the eye's natural lens can occur, leading to blurry vision.
- Optic nerve abnormalities: Swelling of the optic disc (papilledema), often associated with hypocalcemia (low calcium levels), can occur and may require prompt attention. Small or tilted optic nerves have also been reported.
- Less common but more severe issues can include microphthalmia (abnormally small eyes) and Peters anomaly (a rare developmental disorder affecting the cornea).
Beyond structural issues, some individuals with 22q11DS may experience visual perceptual problems, even with normal visual acuity. These can manifest as difficulties with processing visual information, spatial orientation, or recognizing objects. Research also suggests altered visual processing in the brain, including atypical attention to faces and eye contact.
Given the range of potential issues, comprehensive eye exams are recommended for individuals with 22q11DS, ideally starting at a young age (around 3 years old) or upon diagnosis, with continued monitoring into adulthood. Early intervention for treatable conditions like refractive errors, strabismus, and amblyopia can significantly improve visual outcomes and overall quality of life.