ectopia lentis
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Introduction
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
Diagnostic procedures
- 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
- slit-lamp examination
Management
- corrective eye surgery
- conservative management with corrective eyeglasses
More general terms
References
- ↑ OMIM https://mirror.omim.org/entry/129600
- ↑ 2.0 2.1 2.2 2.3 2.4 2.5 Cebi Olgun D, Kantarci F. Images in clin medicine: Ectopia lentis. N Engl J Med. 2015 Feb 26;372(9):e13 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/25714185 <Internet> http://www.nejm.org/doi/full/10.1056/NEJMicm1308550
- ↑ 3.0 3.1 Sridhar J, Chang JS Marfan's Syndrome with Ectopia Lentis. N Engl J Med 2017; 377:1076. September 14, 2017 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/28902582 <Internet> http://www.nejm.org/doi/full/10.1056/NEJMicm1406002