Diagnosis of congenital ectopia lentis: a case report and review of the literature.

Abstract

Background: Congenital ectopia lentis (CEL) is a rare ophthalmic disorder characterized by partial or complete dislocation of the lens, leading to significant visual impairment. The etiology is complex, often involving genetic factors and systemic diseases. Early diagnosis and treatment are crucial to prevent complications and preserve the patient's vision.

Case presentation: This report presents a case of a 7-year-and-6-month-old Chinese male patient with congenital ectopia lentis. The patient had a history of high myopia from an early age and poor corrected vision. Diagnostic evaluations included slit-lamp biomicroscopy, biometry, retinal OCT, corneal thickness measurement, corneal topography, and ultrasound examinations. Additionally, whole exome sequencing (WES) was performed to identify gene mutations potentially linked to the clinical manifestations. Imaging studies revealed bilateral lens dislocation accompanied by corneal astigmatism and vitreous opacities. Genetic testing detected a known pathogenic missense mutation (c.3209G > A) in the FBN1 gene, associated with Marfan syndrome. A variant of uncertain significance (VUS) in the COL2A1 gene, potentially related to Stickler syndrome, was also identified.

Conclusion: The diagnosis of congenital ectopia lentis can be confirmed through a combination of imaging studies and genetic testing, particularly when associated with systemic diseases. Imaging techniques help determine the extent of lens dislocation and related complications, while genetic testing provides critical insights into the underlying genetic causes. Early diagnosis and intervention are essential to reduce the risk of complications and improve patients' quality of life.