Eye problems in children with 22q11.2 Duplication

Forbes et al. (2016) J AAPOS. 20(3):278-80.

A new study by Forbes et al. was recently published in the Journal of American Association for Pediatric Ophthalmology and Strabismus. The authors describe the nature and prevalence of eye problems in 19 children with 22q11.2 Duplication that presented in the Children's Hospital of Philadelphia.

The authors examined the medical records of 19 children with 22q11.2 duplication (mean age 7.3) who were evaluated by a pediatric ophthalmologist.

More than half of the children (12/19, 63%) had one or more eye problems and about a third had strabismus (6/19, 32%). The latter rate is higher than that reported in the general population (0.35%). Other eye problems included astigmatism (2/19, 11%), optic disk drusen (1/19, 5%), unilateral congenital cataract (1/19, 5%), nystagmus (1/19, 5%), delayed visual maturation (5%) and bilateral megalocornea with normal eye pressures (1/19, 5%) The refractive errors of the majority of the children did not require glasses.

These findings indicate the need for children with 22q11.2 duplication to have a complete ophthalmological examination on diagnosis as well as regular screenings after that in order to detect and timely treat potential problems that might adversely affect visual development.

Author information:
Dr Maria Niarchou
Research Associate, Institute of Psychological Medicine and Clinical Neurosciences
Cardiff University School of Medicine
Hadyn Ellis Building
Maindy Road
Cardiff CF24 4HQ