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ectopia lentis
lens dislocation
Genetics:
- autosomal dominant
- associated with defects in FBN1
Clinical manifestations:
- overlap Marfan syndrome
- excluding skeletal & cardiovascular manifestations
- amblyopia (case report) [2]
- bilateral vision loss over 3-4 months (case report) [2]
- visual loss may stabilize (case report) [2]
- visual loss may be greater in one eye than the other [3]
- blue sclera
Special laboratory:
- ophthalmoscopy
- slit-lamp examination
- dislocation of the ocular lens into the vitreous in both eyes (case report) [2]
- retinal degeneration (case report) [2]
- no evidence of retinal tear or detachment
Management:
- corrective eye surgery
- conservative management with corrective eyeglasses
General
sign/symptom
Database Correlations
OMIM 129600
References
- OMIM :accession 129600
- Cebi Olgun D, Kantarci F.
Images in clin medicine: Ectopia lentis.
N Engl J Med. 2015 Feb 26;372(9):e13
PMID: 25714185
http://www.nejm.org/doi/full/10.1056/NEJMicm1308550
- Sridhar J, Chang JS
Marfan's Syndrome with Ectopia Lentis.
N Engl J Med 2017; 377:1076. September 14, 2017
PMID: 28902582
http://www.nejm.org/doi/full/10.1056/NEJMicm1406002