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<p>Congenital anterior segment dysgenesis is a rare ocular disorder caused by variants in the <b>FOXE3</b> gene. This case report presents a couple with recurrent pregnancies affected by this condition. Their first child, born with microphthalmia, bilateral aphakia, and corneal opacities, achieved normal developmental milestones despite significant visual impairment. No genetic testing was performed for the first child or after the second pregnancy, which ended in medical termination following a diagnosis of microphthalmia and corneal opacities on antenatal sonography. During the third pregnancy, the couple was advised to undergo genetic testing. Analysis of the first child’s DNA revealed a homozygous nonsense variant in the <b>FOXE3</b> gene (c.720C &gt; A; p.Cys240), classified as pathogenic. Antenatal sonography showed similar ocular anomalies in the fetus, which was confirmed to carry the same variant following amniocentesis. The pregnancy was terminated after genetic counseling. Treatment options for FOXE3-associated primary aphakia remain limited, with poor visual prognosis; surgical interventions such as keratoplasty or intraocular lens implantation often fail due to cicatricial membrane formation, persistent corneal opacity, and risk of phthisis, making management largely supportive. The couple was offered options for future reproductive planning, including in vitro fertilization with preimplantation genetic diagnosis or early prenatal diagnosis. This case emphasizes the importance of genetic testing in recurrent congenital ocular anomalies, enabling precise diagnosis, timely counseling, and prevention of recurrence in future pregnancies.</p>

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Recurrent Congenital Anterior Segment Dysgenesis: Identification of Pathogenic FOXE3 Gene Mutation and Its Implications for Future Pregnancies

  • 期刊论文

  • 发表日期：

    2026年2月2日

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  • Avantika Gupta,
  • Satish Choudhury,
  • Bhavna Dhingra,
  • Jignesh Sharma,
  • Ajay Halder,
  • Ayushi Sethi

摘要

Congenital anterior segment dysgenesis is a rare ocular disorder caused by variants in the FOXE3 gene. This case report presents a couple with recurrent pregnancies affected by this condition. Their first child, born with microphthalmia, bilateral aphakia, and corneal opacities, achieved normal developmental milestones despite significant visual impairment. No genetic testing was performed for the first child or after the second pregnancy, which ended in medical termination following a diagnosis of microphthalmia and corneal opacities on antenatal sonography. During the third pregnancy, the couple was advised to undergo genetic testing. Analysis of the first child’s DNA revealed a homozygous nonsense variant in the FOXE3 gene (c.720C > A; p.Cys240), classified as pathogenic. Antenatal sonography showed similar ocular anomalies in the fetus, which was confirmed to carry the same variant following amniocentesis. The pregnancy was terminated after genetic counseling. Treatment options for FOXE3-associated primary aphakia remain limited, with poor visual prognosis; surgical interventions such as keratoplasty or intraocular lens implantation often fail due to cicatricial membrane formation, persistent corneal opacity, and risk of phthisis, making management largely supportive. The couple was offered options for future reproductive planning, including in vitro fertilization with preimplantation genetic diagnosis or early prenatal diagnosis. This case emphasizes the importance of genetic testing in recurrent congenital ocular anomalies, enabling precise diagnosis, timely counseling, and prevention of recurrence in future pregnancies.