To report the findings in a patient with congenital primary aphakia, a rare disease known to be caused by mutations in the FOXE3 gene.
The clinical appearances and visual functions of the patient were determined from the medical records. Genetic analyses were performed to search for mutations in the FOXE3 gene by Sanger sequencing and whole exome sequencing.
The 2-month-old male patient first presented with bilateral congenital aphakia associated with microphthalmia, corneal opacity, and dysplasia of the anterior segment. At the age of 2-years, his visual acuity in the left eye was 20/1000 at 30 cm, he was able to discriminate red, blue, and yellow light stimuli, and a b-wave was recorded by scotopic combined rod-cone electroretinograms. The right eye became blind during the follow-up period. No mutation in the FOXE3 gene was detected.
Although congenital aphakia is known to be caused by mutations in the FOXE3 gene, the results of lack of coding mutation in this patient suggests a possible genetic heterogeneity of the disease.

BACKGROUND: the ultrasound prenatal diagnosis of aphakia is a difficult diagnosis and often requires a genetic study of the karyotype.
METHODS: we present a rare case of prenatal bilateral aphakia, confirmed after bird. The patient was observed by ultrasound during the 23rd week of pregnancy. Through transabdominal ultrasound the lens could not be visualized bilaterally. The remaining anathomy, explorable by ultrasound, was still regular. When aphakia is suspected, genetic counseling is essential.
CONCLUSIONS: a differential diagnosis between aphakia and anophtalmia is necessary. A TORCH complex evaluation can be useful. Amniocentesis is always required.

Abstract Background: A microdeletion in the chromosome 22q11.2 (DiGeorge or velocardiofacial syndrome) is the most common human deletion syndrome. Patients with 22q11.2 deletion may have a wide range of ocular findings but severe ocular involvement is uncommon. Here, we describe a 2-year-old boy who had growth retardation, developmental delay, right renal agenesis, ventricular septal defect and severe bilateral ocular anomalies.
METHODS: The systemic and ocular findings and cranial magnetic resonance imaging study results were reviewed. Fluorescence in situ hybridization analysis was performed on his peripheral blood.
RESULTS: The patient presented with the oculodigital sign. On examination, he had severe right microphthalmia with no light perception and his left eye could not fix and follow. The left eye had anterior segment dysgenesis, mild sclerocornea, corneal staphyloma and congenital aphakia. Systemic findings included growth deficiency, microcephaly, micrognathia, ventricular septal defect, atrial septal defect and right renal agenesis. Fluorescence in situ hybridization analysis of this patient was significant for a heterozygous deletion covering DiGeorge critical region 2 and spanning a 250 kb region in the 22q11.2 locus.
CONCLUSIONS: The 22q11.2 deletion syndrome may be associated with severe bilateral ocular malformations including microphthalmia, sclerocornea, corneal staphyloma, anterior segment dysgenesis and congenital aphakia. Corneal staphyloma might have resulted from the oculodigital phenomenon or increased intraocular pressure.