In this report, three cases with pseudoexfoliation (PEX) and advanced age with spontaneous intraocular lens (IOL) and capsule tension ring (CTR) dislocation were presented. All of our cases experienced progressive vision loss without an episode of strenuous physical activity, trauma, or any other ocular disease. Spontaneous dislocation was observed 2.5 to 8 years after uneventful phacosurgery. ...

OBJECTIVE To expand the spectrum of genetic causes of autosomal recessive cerebellar ataxia (ARCA). CASE REPORT Two brothers are described who developed progressive cerebellar ataxia at 3 1/2 and 18 years, respectively. After ruling out known common genetic causes of ARCA, analysis of blood peroxisomal markers strongly suggested a peroxisomal biogenesis disorder. Sequencing of candidate PEX g...

OBJECTIVE The aim of this study was to evaluate the demographic characteristics and intraoperative complications of cataract surgery in patients with pseudoexfoliation syndrome (PEX). MATERIALS AND METHODS Cases of 225 eyes (80 eyes with pseudoexfoliation and 145 eyes without pseudoexfoliation as the control group) that underwent phacoemulsification cataract surgery and IOL implantation at th...

PURPOSE To determine whether the severity of glaucomatous damage in eyes with pseudoexfoliative (PEX) glaucoma is related to the amount of PEX material in the trabecular meshwork. METHODS Trabecular meshwork and optic nerves from 19 eyes (11 donors) with PEX syndrome were studied. Eyes were chosen to represent all stages of severity of disease. Sections from each quadrant around the circumfer...

PURPOSE Three common sequence variants in the lysyl oxidase-like 1 (LOXL1) gene were recently associated with both pseudoexfoliation (PEX) and pseudoexfoliation glaucoma (PEXG) in populations from Iceland and Sweden. In this study, the genetic association of these variants was investigated in patients with PEX or PEXG of German and Italian descent. METHODS The three LOXL1 single-nucleotide po...

Evaluation and management of patients with suspected thrombotic thrombocytopenic purpura (TTP) continue to be a critical challenge for hematologists. The diagnostic criteria are not precise, often causing uncertainty about whether it is appropriate to initiate plasma exchange (PEX), the essential treatment for TTP. Initiation of PEX remains a clinical decision; severe ADAMTS13 (< 10% activity) ...

Mutations in the PEX gene at Xp22.1 (phosphate-regulating gene with homologies to endopeptidases, on the X-chromosome), are responsible for X-linked hypophosphataemic rickets (HYP). Homology of PEX to the M13 family of Zn2+ metallopeptidases which include neprilysin (NEP) as prototype, has raised important questions regarding PEX function at the molecular level. The aim of this study was to ana...

PURPOSE To assess for the first time the possible contribution of latent transforming growth factor (TGF)-beta binding protein 2 (LTBP2), an extracellular matrix (ECM) protein that associates with fibrillin-1-containing microfibrils, to the etiology of primary open angle glaucoma (POAG) and pseudoexfoliation (PEX) syndrome. Mutations in LTBP2 have previously been shown to be the cause of primar...

Pseudoexfoliation syndrome (PEX) is the most common clinical precursor of open-angle glaucoma. Recent studies have shown that pseudoexfoliative material is widely distributed throughout the body, including blood vessels. The aim of our study was to evaluate endothelial function in the brachial artery of patients with pseudoexfoliation syndrome. We prospectively examined 23 patients with PEX (me...