Posterior polymorphous corneal dystrophy in X linked Alport syndrome
نویسندگان
چکیده
منابع مشابه
Posterior Corneal Steepening in Posterior Polymorphous Corneal Dystrophy.
PURPOSE The aim was to evaluate the anterior and posterior corneal topographic characteristics of three patients with posterior polymorphous corneal dystrophy (PPCD) using a rotating Scheimpflug camera combined with a Placido disc system (Sirius, CSO, Italy). CASE REPORTS Two children with unilateral PPCD and a 53-year-old woman with bilateral PPCD were diagnosed by the presence of vesicles a...
متن کاملTranscriptomic Profiling of Posterior Polymorphous Corneal Dystrophy
Purpose To investigate the molecular basis of posterior polymorphous corneal dystrophy (PPCD) by examining the PPCD transcriptome and the effect of decreased ZEB1 expression on corneal endothelial cell (CEnC) gene expression. Methods Next-generation RNA sequencing (RNA-seq) analyses of corneal endothelium from two PPCD-affected individuals (one with PPCD3 and one of unknown genetic cause) com...
متن کاملContact lens fitting in a patient with Alport syndrome and posterior polymorphous corneal dystrophy: a case report.
Alport Syndrome is a hereditary disease that is caused by a gene mutation and affects the production of collagen in basement membranes; this condition causes hemorrhagic nephritis associated with deafness and ocular changes. The X-linked form of this disease is the most common and mainly affects males. Typical ocular findings are dot-and-fleck retinopathy, anterior lenticonus, and posterior pol...
متن کاملX-linked Alport syndrome
X-linked Alport syndrome (AS) is a heritable disorder which is associated with mutations in the type IV collagen oc5(IV) chain gene (COL4A5) located on chromosome X. Following renal transplantation, an average of 6% of male AS patients develop anti-GBM nephritis. We studied the specificity of the antibodies against type IV collagen in the serum of a patient with COL4A5 partial deletion. The spe...
متن کاملClinical Features in Children with Posterior Polymorphous Corneal Dystrophy.
PURPOSE To describe clinical features in children diagnosed with posterior polymorphous corneal dystrophy (PPCD) in their first or second decade of life. METHODS A retrospective study was performed with the medical records of seven unrelated Korean pediatric patients who were diagnosed with PPCD and were followed up for a minimum of 3 years. Thorough ocular examinations were performed, includ...
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ژورنال
عنوان ژورنال: Revista Brasileira de Oftalmologia
سال: 2016
ISSN: 0034-7280
DOI: 10.5935/0034-7280.20160079