Lack of FOXE3 coding mutation in a case of congenital aphakia

Yusuke Sano, Yusuke Matsukane, Akihisa Watanabe, Kohei Sonoda, Hiroyuki Kondo

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)95-98
Number of pages4
JournalOphthalmic Genetics
Volume39
Issue number1
DOIs
Publication statusPublished - Jan 2 2018

Fingerprint

Aphakia
Mutation
Genes
Microphthalmos
Exome
Corneal Opacity
Vertebrate Photoreceptor Cells
Inborn Genetic Diseases
Genetic Heterogeneity
Rare Diseases
Visual Acuity
Medical Records
Light

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology
  • Genetics(clinical)

Cite this

Lack of FOXE3 coding mutation in a case of congenital aphakia. / Sano, Yusuke; Matsukane, Yusuke; Watanabe, Akihisa; Sonoda, Kohei; Kondo, Hiroyuki.

In: Ophthalmic Genetics, Vol. 39, No. 1, 02.01.2018, p. 95-98.

Research output: Contribution to journalArticle

Sano, Yusuke ; Matsukane, Yusuke ; Watanabe, Akihisa ; Sonoda, Kohei ; Kondo, Hiroyuki. / Lack of FOXE3 coding mutation in a case of congenital aphakia. In: Ophthalmic Genetics. 2018 ; Vol. 39, No. 1. pp. 95-98.
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