July 2018
Volume 59, Issue 9
Open Access
ARVO Annual Meeting Abstract  |   July 2018

Sclerocornea-microphthalmia-aphakia complex: Description of two additional cases associated with novel FOXE3 mutations and review of the literature.
Author Affiliations & Notes
  • Natalia Paulina Quiroz-Casian
    Cornea and Refractive Surgery, Instituto de oftalmología Fundación Conde de Valenciana, Mexico City, CDMX, Mexico
  • Oscar Chacon-Camacho
    Department of Genetics-Research Unit, Institute of Ophthalmology "Conde de Valenciana" M, Mexico City, DF, Mexico
  • Tania Barragan-Arevalo
    Department of Genetics-Research Unit, Institute of Ophthalmology "Conde de Valenciana" M, Mexico City, DF, Mexico
  • Jessica Nava-Valdez
    Department of Genetics-Research Unit, Institute of Ophthalmology "Conde de Valenciana" M, Mexico City, DF, Mexico
  • Alejandro Navas
    Cornea and Refractive Surgery, Instituto de oftalmología Fundación Conde de Valenciana, Mexico City, CDMX, Mexico
  • Enrique O Graue-Hernandez
    Cornea and Refractive Surgery, Instituto de oftalmología Fundación Conde de Valenciana, Mexico City, CDMX, Mexico
  • Juan Carlos Zenteno
    Department of Genetics-Research Unit, Institute of Ophthalmology "Conde de Valenciana" M, Mexico City, DF, Mexico
  • Footnotes
    Commercial Relationships   Natalia Paulina Quiroz-Casian, None; Oscar Chacon-Camacho, None; Tania Barragan-Arevalo, None; Jessica Nava-Valdez, None; Alejandro Navas, None; Enrique Graue-Hernandez, None; Juan Zenteno, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science July 2018, Vol.59, 2925. doi:
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    • Get Citation

      Natalia Paulina Quiroz-Casian, Oscar Chacon-Camacho, Tania Barragan-Arevalo, Jessica Nava-Valdez, Alejandro Navas, Enrique O Graue-Hernandez, Juan Carlos Zenteno;
      Sclerocornea-microphthalmia-aphakia complex: Description of two additional cases associated with novel FOXE3 mutations and review of the literature.. Invest. Ophthalmol. Vis. Sci. 2018;59(9):2925.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose : To describe two sporadic Mexican patients suffering from congenital bilateral, total sclerocornea, aphakia, and microphthalmia with the identification of two novel biallelic mutations in the FOXE3 gene.

Methods : Two affected individuals with congenital bilateral, total sclerocornea, aphakia and microphthalmia underwent detailed examinations by ophthalmologists including slit lamp examination, visual acuity measurements, and intraocular pressure measurements. Ocular ultrasonography and ultrasound biomicroscopy (UBM) were performed in each affected individual. Genomic DNA was isolated from blood leukocytes in each subject and molecular analysis of Forkhead box protein E3 (FOXE3) mutation was performed with PCR amplification and direct DNA sequencing. For cosegregation analysis, presumable pathogenic variants were tested by Sanger sequencing in patients’ parents.

Results : Molecular analysis of FOXE3 was performed in 2 cases with congenital bilateral, total sclerocornea, aphakia and microphthalmia. Parents of patient #1 were consanguineous and FOXE3 gene analysis demonstrated a novel a c.291C>G (p.Ile97Met) pathogenic variant. In patient #2, compound heterozygosity for the novel c.387C>G (p.Phe129Leu) transversion and for the previously reported c.244A>G (p.Met82Val) transition, was recognized.

Conclusions : The sclerocornea-microphthalmia-aphakia complex is a severe malformative ocular phenotype resulting from biallelic mutations in the FOXE3 gene. To date, patients from 14 families with this uncommon ocular disorder have been described, most of them from consanguineous Asian pedigrees. In the present study, we describe 2 sporadic Mexican patients suffering from congenital bilateral, total sclerocornea, aphakia, and microphthalmia. The identification of two novel pathogenic variants expands the mutational spectrum in FOXE3-related congenital eye disorders. In addition, we performed a review of the clinical and genotypic characteristics of all published patients carrying biallelic FOXE3 mutations.

This is an abstract that was submitted for the 2018 ARVO Annual Meeting, held in Honolulu, Hawaii, April 29 - May 3, 2018.

 

 

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