Ocular findings in children with a microdeletion in chromosome 22q11.2

A microdeletion in chromosome 22q11.2 is one of the most frequent genetic syndromes. The phenotypic manifestations vary widely, which has led to its initial description as apparently different clinical entities, such as the velocardiofacial syndrome (VCFS) and DiGeorge syndrome. Characteristic features include cleft palate, conotruncal heart malformations, thymus hypoplasia, hypoparathyroidism, a characteristic facial phenotype and learning difficulties. Ocular abnormalities are frequently seen in this patient population. We describe the ophthalmological findings in 36 children between the age of 3 and 14 years with a microdeletion in chromosome 22q11.2. They underwent a full ophthalmological examination with assessment of visual acuity, eye position and motility, stereoscopic vision, biomicroscopic examination, refraction and fundoscopy. If necessary amblyopia treatment was started and follow-up was planned. The presence of a cardiovascular malformation was noted. In conclusion, refractive errors, strabismus, amblyopia and structural ocular abnormalities are frequently encountered in children with a microdeletion in chromosome 22q11.2. Ophthalmological examination at a young age and refractive correction in those children is warranted. On the other hand, ocular findings can give a clue to the diagnosis of del 22q11.2.