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Introduction <p>Congenital aniridia (CA) is a severe and complex disorder involving the entire eye, primarily characterized by iris anomalies alongside other clinical features that pose significant risks to vision. This study seeks to offer a comprehensive overview of CA by detailing its clinical presentations, genetic underpinnings, associated phenotypes, and differential diagnoses. Additionally, it proposes a diagnostic framework to distinguish CA from other conditions that present with similar iris abnormalities.</p> Methods <p>We conducted a comprehensive literature review to compile and analyze clinical and genetic data related to CA and its differential diagnoses. We included all studies describing the clinical characteristics, pathogenic variants, and associated syndromes of congenital aniridia.</p> Results <p>CA presents a wide range of ocular symptoms. Pathogenic variants in the PAX6 gene are the primary genetic cause of CA, though variations in other genes, including <i>FOXC1, PITX2, CYP1B1, FOXD3, PITX3, CPAMD8, ITPR1, TENM3</i>, <i>TRIM44</i>, <i>COL4A1, CRYAA</i>, and <i>PXDN</i> may also be implicated. The differential diagnosis of CA requires careful consideration of conditions with overlapping symptoms, such as WAGR syndrome (which involves deletions affecting the <i>PAX6</i> and <i>WT1</i> genes on chromosome 11p13, and potentially <i>BDNF</i> on 11p14.1), Axenfeld–Rieger syndrome (<i>FOXC1/PITX2</i>), ring-chromosome 6 syndrome (which involves <i>FOXC1</i> microdeletion), <i>COL4A1</i>-related anterior segment dysgenesis, Gillespie syndrome (<i>ITPR1</i> gene) or Peters anomaly. Accurate diagnosis can be achieved by evaluating specific clinical features—including iris anomalies, aniridia-associated keratopathy, cataracts, glaucoma, foveal hypoplasia, nystagmus, and optic nerve head abnormalities—supplemented by genetic testing.</p> Conclusions <p>Understanding the diverse clinical presentations and genetic basis of diseases associated with iris abnormalities is essential for accurate diagnosis and effective management. Integrating genetic diagnostics into the evaluation process enables the development of tailored treatment strategies, which can significantly improve patient outcomes.</p>

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Comprehensive Analysis of Congenital Aniridia and Differential Diagnoses: Genetic Insights and Clinical Manifestations

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年3月26日

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  • Jonathan Hall,
  • Marta Corton,
  • Fabian Norbert Fries,
  • Jessica Obst,
  • Clara Grünauer-Kloevekorn,
  • Berthold Seitz,
  • Maria della Volpe Waizel,
  • Eszter Jávorszky,
  • Kálmán Tory,
  • Erika Maka,
  • Maryam Amini,
  • Shweta Suiwal,
  • Tanja Stachon,
  • Nóra Szentmáry

摘要

Introduction

Congenital aniridia (CA) is a severe and complex disorder involving the entire eye, primarily characterized by iris anomalies alongside other clinical features that pose significant risks to vision. This study seeks to offer a comprehensive overview of CA by detailing its clinical presentations, genetic underpinnings, associated phenotypes, and differential diagnoses. Additionally, it proposes a diagnostic framework to distinguish CA from other conditions that present with similar iris abnormalities.

Methods

We conducted a comprehensive literature review to compile and analyze clinical and genetic data related to CA and its differential diagnoses. We included all studies describing the clinical characteristics, pathogenic variants, and associated syndromes of congenital aniridia.

Results

CA presents a wide range of ocular symptoms. Pathogenic variants in the PAX6 gene are the primary genetic cause of CA, though variations in other genes, including FOXC1, PITX2, CYP1B1, FOXD3, PITX3, CPAMD8, ITPR1, TENM3, TRIM44, COL4A1, CRYAA, and PXDN may also be implicated. The differential diagnosis of CA requires careful consideration of conditions with overlapping symptoms, such as WAGR syndrome (which involves deletions affecting the PAX6 and WT1 genes on chromosome 11p13, and potentially BDNF on 11p14.1), Axenfeld–Rieger syndrome (FOXC1/PITX2), ring-chromosome 6 syndrome (which involves FOXC1 microdeletion), COL4A1-related anterior segment dysgenesis, Gillespie syndrome (ITPR1 gene) or Peters anomaly. Accurate diagnosis can be achieved by evaluating specific clinical features—including iris anomalies, aniridia-associated keratopathy, cataracts, glaucoma, foveal hypoplasia, nystagmus, and optic nerve head abnormalities—supplemented by genetic testing.

Conclusions

Understanding the diverse clinical presentations and genetic basis of diseases associated with iris abnormalities is essential for accurate diagnosis and effective management. Integrating genetic diagnostics into the evaluation process enables the development of tailored treatment strategies, which can significantly improve patient outcomes.