Telmatoscopus albipunctatus, a cosmopolitan fly, is widely distributed throughout moist environments. It is one of the most medically important insects (especially in urban environments) that may potentially cause myiasis. Urinary myiasis and other sites of infestation, including the intestine, nasal passages, lung, and derma, have been reported. This is the first case report of a Chinese middl...

PURPOSE To compare the multifocal electroretinogram (ERG) system to conventional ganzfeld and focal ERGs obtained from patients with known retinal diseases to assess its clinical applicability. METHODS A multi-input system analysis was used to explore the field topography of ERG responses to local luminance modulation in patients with retinitis pigmentosa, pericentral pigmentary retinal dystr...

Introduction. In this retrospective study we evaluated the multimodal visualization of retinal genetic diseases to better understand their natural course. Material and Methods. We reviewed the charts of 70 consecutive patients with different genetic retinal pathologies who had previously undergone multimodal imaging analyses. Genomic DNA was extracted from peripheral blood and genotyped at the ...

Retinoids are chromophores involved in vision, transcriptional regulation, and cellular differentiation. Members of the short chain alcohol dehydrogenase/reductase superfamily catalyze the transformation of retinol to retinal. Here, we describe the identification and properties of three enzymes from a novel subfamily of four retinol dehydrogenases (RDH11-14) that display dual-substrate specific...

IMPORTANCE Fundus albipunctatus (FA) is a form of congenital stationary night blindness characterized by yellow-white spots, which were classically described as subretinal. Although night blindness and delayed dark adaptation are hallmarks of this condition, recent studies have described a macular phenotype, particularly among older patients. Using a fluorescence adaptive optics scanning laser ...

PURPOSE To determine clinical phenotypes, examine the age dependency of X-linked juvenile retinoschisis (XLRS), and identify mutations in the retinoschisis1 gene (RS1) in 13 Hungarian (Caucasian) families with this disease. METHODS This study included 72 members in 13 families. Complete ophthalmological examinations, including optical coherence tomography (OCT) and full-field and multifocal e...

Vertebrate vision starts with photoisomerization of the 11-cis-retinal chromophore to all-trans-retinal. Biosynthesis of 11-cis-retinal is required to maintain vision. A key enzyme catalyzing the oxidation of 11-cis-retinol is 11-cis-retinol dehydrogenase (11-cis-RDH), which is encoded by the RDH5 gene. 11-cis-RDH is expressed in the RPE and not in the neural retina. The consequences of a lack ...