NORMAL ELECTROOCULOGRAPHY IN BEST DISEASE AND AUTOSOMAL RECESSIVE BESTROPHINOPATHY

A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy.

PURPOSE To describe the clinical characteristics associated with a newly identified mutant of autosomal recessive bestrophinopathy (ARB) and confirm the associated physiological functional defects. METHODS Two patients with ARB from one family underwent a full ophthalmic examination, including dilated fundus examination, fundus photography, fluorescein angiography, fundus autofluorescence ima...

Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy.

PURPOSE Autosomal recessive bestrophinopathy (ARB) is a retinal dystrophy affecting macular and retinal pigmented epithelium function resulting from homozygous or compound heterozygous mutations in BEST1. In this study we characterize the functional implications of missense bestrophin-1 mutations that cause ARB by investigating their effect on bestrophin-1's chloride conductance, cellular local...

Autosomal Recessive Polycystic Kidney Disease

A 25-year-old pregnant female reported at 28 weeks of gestation with non specific abdominal pain. On evaluation, the ultra-sonogram revealed a single live fetus in breech presentation. Placenta was anterior and high and there was severe oligohydramnios. Both fetal kidneys were enlarged in size (occupying most of the abdominal cavity) and homogenously hyperechoic & studded with numerous variable...

Autosomal-recessive polycystic kidney disease.

Autosomal Recessive Polycystic Kidney Disease

The following fictional case is intended as a learning tool within the Pathology Competencies for Medical Education (PCME), a set of national standards for teaching pathology. These are divided into three basic competencies: Disease Mechanisms and Processes, Organ System Pathology, and Diagnostic Medicine and Therapeutic Pathology. For additional information, and a full list of learning objecti...