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Ocular Findings in Children With 22q11.2 Deletion Syndrome
Insights
Children with 22q11.2 deletion syndrome frequently exhibit ocular abnormalities, including eyelid issues and posterior embryotoxon. Comprehensive eye exams are crucial for diagnosing and managing this common genetic disorder.
Area of Science:
- Genetics
- Ophthalmology
- Pediatrics
Background:
- 22q11.2 deletion syndrome is the most common microdeletion syndrome.
- It is associated with diverse facial and ocular abnormalities.
Purpose of the Study:
- To identify ocular features in Turkish children with 22q11.2 deletion syndrome.
- To highlight the importance of ophthalmological evaluation in these patients.
Main Methods:
- A cohort of 16 children (4 months–18 years) with 22q11.2 deletion underwent detailed ophthalmological examinations.
- Evaluations included visual acuity, stereoscopic vision, biomicroscopy, fundus examination, and ocular motility testing.
Main Results:
- All patients presented with at least one ocular abnormality.
- Common findings included eyelid abnormalities (e.g., eye hooding, narrow palpebral fissure), posterior embryotoxon, and tortuous retinal vessels.
- Other observed disorders were refractive errors, iris remnants, and strabismus.
Conclusions:
- 22q11.2 deletion syndrome is linked to a broad spectrum of ocular disorders.
- Comprehensive eye examinations are essential for diagnosis, treatment, and follow-up.
- Ocular findings can serve as diagnostic clues for 22q11.2 deletion syndrome.
Purpose:
To identify the ocular features of children diagnosed as having 22q11.2 deletion syndrome in a Turkish population, which is the most common microdeletion syndrome with a wide range of facial and ocular abnormalities.
Methods:
Sixteen children aged between 4 months and 18 years with a microdeletion in chromosome 22q11.2 underwent a detailed ophthalmological examination including uncorrected and best corrected visual acuity testing, stereoscopic vision examination, biomicroscopic and indirect fundus examination, and ocular motility testing.
Results:
All patients had at least one ocular abnormality. The major abnormalities were eyelid abnormalities (eye hooding, narrow palpebral fissure, telecanthus, hypertelorism, sparse and thin eyebrows and eyelashes, blepharitis, and distichiasis), posterior embryotoxon, and tortuous retinal vessels in at least half of the patients. Other ophthalmological disorders were refractive errors, iris remnants, and strabismus.
Conclusions:
The chromosome 22q11.2 deletion syndrome is associated with a wide range of ocular disorders, which necessitates a comprehensive eye examination for appropriate treatment and follow-up. Ocular findings sometimes can provide a clue to the diagnosis of 22q11.2 deletion. [J Pediatr Ophthalmol Strabismus. 2016;53(4):218-222].
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