Kondo Hiroyuki
   Department   School of Medicine  Ophthalmology, Clinical Medical Sciences
Article types journal article
Language English
Peer review Peer reviewed
Title Lack of FOXE3 coding mutation in a case of congenital aphakia.
Journal Formal name:Ophthalmic genetics
Abbreviation:Ophthalmic Genet
ISSN code:17445094/13816810
Domestic / ForeginForegin
Volume, Issue, Page 39(1),95-98頁
Author and coauthor Sano Yusuke, Matsukane Yusuke, Watanabe Akihisa, Sonoda Ko-Hei, Kondo Hiroyuki
Publication date 2017/12
Summary PURPOSE:To report the findings in a patient with congenital primary aphakia, a rare disease known to be caused by mutations in the FOXE3 gene.METHODS: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.RESULTS: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.CONCLUSION: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.
DOI 10.1080/13816810.2017.1350722
PMID 28805541