Potential ASPH-Related Ectopia Lentis
Author:
Affiliation:
1. Eye Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, UAE; and Department of Ophthalmology, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, Ohio.
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Neurology (clinical),Ophthalmology
Reference5 articles.
1. Case of an inadvertent filtering bleb in Marfan syndrome resulting in clinical hypotony;Berry;J Neuroophthalmol,2023
2. A family with a syndrome of ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism;Shawaf;Ophthalmic Genet.,1995
3. Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome;Patel;Am J Hum Genet.,2014
4. Traboulsi syndrome caused by mutations in ASPH: an autosomal recessive disorder with overlapping features of Marfan syndrome;Jones;Eur J Med Genet.,2022
5. Traboulsi syndrome due to ASPH mutation: an under-recognised cause of ectopia lentis;Kulkarni;Clin Dysmorphol.,2019
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