Published in Case Reports in Ophthalmology
Sturge-Weber syndrome (SWS) is a rare, sporadic neurocutaneous disorder, primarily characterized by port-wine stain (PWS) over the ophthalmic division of the trigeminal nerve (V1) territory (hallmark feature) and glaucoma (in 30–60% of cases). Other ocular manifestations include episcleral involvement of the PWS, choroidal vascular malformations, a...
Published in American journal of ophthalmology case reports
To describe two cases of ectopia lentis with different preoperative management strategies following the initial diagnostic dilated exam. In both cases, the patients presented with bilateral subluxation of the crystalline lens. Neither patient had a known history of Marfan's disease, homocystinuria or other systemic disorders that affect the body's ...
Published in Indian Journal of Ophthalmology
Purpose: To assess the role of surgical peripheral iridectomy (PI) in preventing iris-related complications associated with glued intraocular lens (GIOL) surgery in children with bilateral ectopia lentis. Methods: Nonrandomized interventional case series of 34 eyes of 17 children (
Published in Indian journal of ophthalmology
Published in Matrix biology : journal of the International Society for Matrix Biology
Mutations in the secreted metalloproteinase ADAMTS10 cause recessive Weill-Marchesani syndrome (WMS), comprising ectopia lentis, short stature, brachydactyly, thick skin and cardiac valve anomalies. Dominant WMS caused by FBN1 mutations is clinically similar and affects fibrillin-1 microfibrils, which are a major component of the ocular zonule. ADA...
Published in Disease Models & Mechanisms
Summary: Targeted knockout of Fbn1 in the ciliary epithelium of the mouse eye undermines the structural and biomechanical integrity of the ciliary zonule and results in an ectopia lentis phenotype.
Published in Case Reports in Ophthalmology
Purpose: To report an unusual case of ectopia lentis and angle closure in a patient with chronic eye rubbing. Methods: A 57-year-old male with a history of poorly controlled atopic dermatitis presented with right eye pain, decreased vision, and an intraocular pressure (IOP) of 55 mm Hg. He had no past history of ocular disease and no reported histo...
Published in Clinica chimica acta; international journal of clinical chemistry
Previous studies demonstrated that patients with different FBN1 mutations often present more considerable phenotypic variation compared to different members of the related family carrying a same mutation. The purpose of our study was to identify pathogenic mutation and provide more information about genotype-phenotypic correlations in a large Chine...
Published in Graefe's Archive for Clinical and Experimental Ophthalmology
PurposeTo compare outcomes of phacoaspiration (PA) with Cionni ring-assisted posterior-chamber intraocular lens implantation (PCIOL) versus pars plana lensectomy (PPL) with anterior vitrectomy (AV) and sutureless transscleral fixation of the IOL (TSFIOL) assisted with fibrin glue in the management of a subluxated lens.MethodsIn this prospective and...
Surgical timing for ectopia lentis has not been well described until now. The purpose of this study is to find a benchmark as to how far observation would be allowed in children with ectopia lentis when they and their families are reluctant to go through surgery. Retrospective review was made on 15 consecutive patients (14 children and one adult) w...
