Click the arrow to see the next slide with the correct interpretation.
8-Year-Old with Concern for Growth Delay
This case features an 8-year-old presenting with concern for growth delay, ultimately diagnosed with ectopia lentis.
Imaging overview:
Axial T2 MRI demonstrates bilateral displacement of the native ocular lenses, consistent with ectopia lentis. The finding was identified on brain MRI obtained in the workup of growth delay, highlighting the importance of evaluating incidental orbital findings on neuroimaging.
Clinical insight:
Ectopia lentis refers to dislocation or displacement of the ocular lens from its normal position. When identified bilaterally, a heritable connective tissue disorder should be strongly considered. Marfan syndrome is the most common cause of heritable ectopia lentis, accounting for approximately 75% of cases, with homocystinuria being the second most common cause. Recognition of this finding on cross-sectional imaging, even when obtained for an unrelated indication, is clinically significant as it can prompt genetic evaluation and systemic workup for underlying connective tissue disease, which carries important cardiovascular and musculoskeletal implications.
Case courtesy of Jessica Houk, MD, Duke University Medical Center.