Clinical Features of Codon 172 RDSMacular Dystrophy

Clinical features of codon 172 RDS macular dystrophy: similar phenotype in 12 families.

OBJECTIVE To report the phenotype associated with the codon 172 RDS (gene for retinal degeneration slow) mutation in 11 separate families with an arginine-to-tryptophan substitution with common ancestry, and 1 family with an arginine-to-glutamine transition. PATIENTS Screening for RDS gene mutations was performed in 400 subjects with autosomal dominant retinal degeneration. Twelve families we...

Oculopharyngeal muscular dystrophy: Clinical and neurophysiological features.

Clinical and laboratory features distinguishing juvenile polymyositis and muscular dystrophy.

OBJECTIVE To differentiate juvenile polymyositis (PM) and muscular dystrophy, both of which may present with chronic muscle weakness and inflammation. METHODS We studied 39 patients with probable or definite juvenile PM and 9 patients with muscular dystrophies who were initially misdiagnosed as having juvenile PM. Differences in demographic, clinical, and laboratory results; outcomes; and tre...

Clinical and genetic features in Italian Bietti crystalline dystrophy patients

AIM The aim of the study was to describe the clinical and genetic features of 15 Italian patients with Bietti crystalline dystrophy (BCD). METHODS All study participants underwent a complete ophthalmological examination, including standard electroretinogram (ERG), optical coherence tomography, microperimetry, autofluorescence and multifocal electroretinogram. The 11 exons of the CYP4V2 gene w...

Clinical 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...