The Nougaret form of dominant stationary night blindness is linked to a G38D mutation in the rod transducin-alpha subunit (Talpha). In this study, we have examined the mechanism of Nougaret night blindness using transgenic mice expressing TalphaG38D. The biochemical, electrophysiological, and vision-dependent behavioral analyses of the mouse model revealed a unique phenotype of reduced rod sens...

Patients with congenital achromatopsia and congenital stationary night blindness have been known to show a transient pupillary constriction to darkness. We examined 50 normal subjects and 108 patients with retinal and optic nerve dysfunction to see if any had an initial pupillary constriction to darkness. We used a new infrared television apparatus. Four patients with congenital stationary nigh...

Cystic fibrosis (CF) is an autosomal recessive lethal disease that is predominantly occur in the caucasian populations and causes many clinical signs. The major clinical signs are pancreatic insufficiency and progressive lung disease but night blindness and diabetes are less well known. We report a fifteen years old non-caucasian girl that have cystic fibrosis with atypical night blindness, dia...

A 62-year-old woman on chronic haemodialysis since November 2008 for end-stage renal disease (ESRD) due to autosomal dominant polycystic kidney disease (ADPKD) had developed a massive polycystic liver (10.647 mL), causing severe abdominal discomfort, early satiety, dyspepsia and dyspnoea (Figure 1). On the basis of the demonstrated effectiveness of somatostatin analogues in reducing the liver v...