Ocular findings in 22q11.2 deletion syndrome: A systematic literature review and results of a Dutch multicenter study

Abstract

The 22q11.2 deletion syndrome (22q11.2DS) is a multisystem disorder with an estimated prevalence of 1:3000 live births. Manifestations show a marked variability in expression and include speech‐ and language delay, intellectual disability, and neuropsychiatric disorders. We aim to provide an overview of ocular findings in 22q11.2DS in order to optimize recommendations for ophthalmic screening. We combined results from a systematic literature review with results from a multicenter cross‐sectional study of patients with 22q11.2DS who were assessed by an ophthalmologist. Our systematic literature search yielded four articles, describing 270 patients. We included 132 patients in our cross‐sectional study (median age 8.9 [range 0–56] years). Most reported ocular findings were retinal vascular tortuosity (32%–78%), posterior embryotoxon (22%–50%), eye lid hooding (20%–67%), strabismus (12%–36%), amblyopia (2%–11%), ptosis (4%–6%), and refractive errors, of which hyperopia (6%–48%) and astigmatism (3%–23%) were most common. Visual acuity was (near) normal in most patients (91%–94%). Refractive errors, strabismus, and amblyopia are treatable conditions that are frequently present in patients with 22q11.2DS and should be corrected at an early stage. Therefore, in 22q11.2DS, we recommend ophthalmic and orthoptic screening at the age of 3 years or at diagnosis, and a low‐threshold referral in adults.

Unique functional neuroimaging signatures of genetic versus clinical high risk for psychosis

“…While these are exploratory findings, they are consistent with the hypothesis that neuronal metabolic pathology and/or vascular and hemodynamic abnormalities in 22qDel underlie some of the observed rs-fMRI differences. 22qDel is associated with high rates of congenital cardiac defects (12) and increased neurovascular anomalies (68,69). In our sample, we did not find a relationship between congenital heart defects and rs-fMRI measures, but there may be neurovascular alterations in 22qDel that are unrelated to categorical cardiac defect status.…”

The Effect of Various Genetic Diseases and Eye Surgeries on Iris Discoloration

“…Identifying a specific type can establish or confirm the diagnosis of HTAD syndrome, dictate the extensive evaluation of the arterial tree in HTAD with known distal vascular involvement, and minimize more accurate follow-up and earlier surgical intervention in HTAD with a high risk of dissection. [3,4] In this review, we present the latest evidence for the role of genetics in patients with HTAD. In almost 90% of cases, OI is inherited as an autosomal dominant trait.…”