Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.

SUMMARY: Phenopolis is an open-source web server providing an intuitive interface to genetic and phenotypic databases. It integrates analysis tools such as variant filtering and gene prioritization based on phenotype. The Phenopolis platform will accelerate clinical diagnosis, gene discovery and encourage wider adoption of the Human Phenotype Ontology in the study of rare genetic diseases. AVAILABILITY AND IMPLEMENTATION: A demo of the website is available at https://phenopolis.github.io . If you wish to install a local copy, source code and installation instruction are available at https://github.com/phenopolis . The software is implemented using Python, MongoDB, HTML/Javascript and various bash shell scripts. CONTACT: n.pontikos@ucl.ac.uk. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

Bilateral posterior scleritis due to giant cell arteritis.

A woman aged mid 70s with mild learning difficulty presented with eye symptoms, headache and shoulder pains. She was found to have bilateral posterior scleritis secondary to giant cell arteritis. Posterior scleritis is a potentially blinding condition, with ambiguous symptoms and signs, therefore diagnosis is commonly delayed. This patient was seen in General Practice as well as in Accident and Emergency, where diagnoses of acute angle closure glaucoma as well as iritis were rightfully considered. Her symptoms persisted for 11 days before ophthalmic opinion was sought. Thorough assessment of a painful red eye as well as knowledge of these red-flag signs may allow early treatment and a better outcome for patients. The Royal College of Ophthalmologists has published guidance on how to assess and manage visual loss in people with learning difficulties, including recognising 'symptoms' such as hesitancy on steps, eye rubbing and loss of interest in activities.