Background: Blind percutaneous pleural biopsy has traditionally been performed to investigate the etiology of exudative pleural effusion in which the initial thoracocentesis has been non- diagnostic. In view of the increasing use of image-guided and thoracoscopic pleural biopsies, this study examined the role of blind Abrams pleural biopsy in the investigation of the exudative pleural effusion ...

Purpose: To examine the common single-nucleotide polymorphisms in complement factor H (CFH), LOC387715, and HTRA1 genes as potential risk factors for exudative age-related macular degeneration (AMD) in the mainland Chinese. Methods: A cohort of 121 unrelated patients with exudative AMD and 132 ageand sexmatched control subjects, all unrelated ethnic Chinese from Northern China, enrolled in this...

PURPOSE Familial exudative vitreoretinopathy (FEVR) is a group of inherited blinding eye diseases characterized by defects in the development of the retinal vessels. Recent studies have identified genetic variants in tetraspanin 12 (TSPAN12) as a cause of FEVR. The purpose of this study was to identify novel TSPAN12 mutations in Chinese patients with FEVR and to describe the associated phenotyp...

Familial exudative vitreoretinopathy (FEVR) is a complex disorder characterized by incomplete development of the retinal vasculature. Here, we report the results obtained on the spectrum of genetic variations and correlated phenotypes found in a cohort of Italian FEVR patients. Eight probands (age range 7-19 years) were assessed by genetic analysis and comprehensive age-appropriate ophthalmic e...

Familial exudative vitreoretinopathy (FEVR) is a rare hereditary retinal disorder characterized by the premature arrest of vascularization in the peripheral retina. The aim of the present study was to characterize the clinical presentations of a Chinese family affected by bilateral severe FEVR, and to identify the underlying genetic variations. One family that presented with bilateral FEVR was ...

KIF11 gene mutations cause a rare autosomal dominant inheritable disease called microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR). Recently, such mutations were also found to be associated with familial exudative vitreoretinopathy (FEVR). Here, we report 7 novel KIF11 mutations identified by targeted gene capture in a cohort of 142 probands with FEVR who ...

PURPOSE To investigate the clinical features and disease-causing mutations in two Chinese families with familial exudative vitreoretinopathy (FEVR). METHODS Clinical data and genomic DNA were collected for patients with FEVR. The coding exons and adjacent intronic regions of FZD4, LRP5, TSPAN12, and NDP were amplified with PCR, and the resulting amplicons were analyzed with Sanger sequencing....

PURPOSE Mutations in tetraspanin 12 (TSPAN12) have recently been identified as a cause of autosomal dominant familial exudative vitreoretinopathy (FEVR). The purpose of this study was to detect TSPAN12 mutations in Chinese patients with FEVR and to describe the associated phenotypes. METHODS Sanger sequencing was used to analyze the seven coding exons and their adjacent regions of TSPAN12 in ...

OBJECTIVES To search for mutations in the Frizzled-4 gene (FZD4) in Chinese patients with familial exudative vitreoretinopathy (FEVR) and to delineate the mutation-associated clinical features. METHODS Forty-eight Chinese patients with FEVR and 100 unrelated control subjects were recruited and had complete ophthalmic examinations performed. The coding regions of FZD4 were screened for mutatio...

Exudative retinal detachment occurs when fluid accumulates between the neurosensory retina and pigment epithelium. Ocular diseases or multisystem conditions such as nephrotic syndrome may lead to exudative detachment. This report describes a case of secondary minimal change disease, anasarca bilateral serous macular in an adult patient. A 75-year-old male patient presented emergency department ...