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Lens dislocation
Case Detail
| Anatomy: Neck-Face |
 Joseph Junewick, MD FACR |
| Diagnostic Category: Genetic |
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| Created: over 3 years ago |
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| Updated: 10 months ago |
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| Tags:
PEDS
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| Modality/Study Types:
CT
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Activities:  PDF  ImageJA |
History
Teenager with loss of consciousness after sledding accident
Case Images
Diagnosis
Lens dislocation related to Marfan syndrome.
Findings
Lenticular dislocation (ectopia lentis) related to lax suspensory ligaments.
Discussion
Marfan syndrome is an autosomal dominant genetic disorder with variable expression resulting in a defective fibrillin-1 protein (a component of elastin). The mutation is sporadic in 15-30%. Abnormalities associated with Marfan syndrome include: scoliosis, pectus deformity, cardiac valve dysfunction, arterial aneurysm and dissection, intestinal hernias and diverticula, joint laxity, pulmonary blebs, liver and renal cysts, and arachnodactyly.
Reference
Ho NC, Hadley DW, Jain PK, et al. Dural Ectasia Associated with Marfan Syndrome. Radiology (2002); 223:767-771.