Ophtara centers of expertise in France: Fostering collaborative research and patient care for rare eye diseases
Sign Up to like & getrecommendations! Published in 2017 at "Acta Ophthalmologica"
DOI: 10.1111/j.1755-3768.2017.0t043
Abstract: Purpose The French National Reference Center on Rare Diseases in Ophthalmology OPHTARA was labeled in 2006. This expertise center (re-labeling in 2017) includes Necker coordinating site, 3 component sites (Paris University Hospitals) and 16 national… read more here.
Keywords: rare eye; center; care; eye ... See more keywords
An ontological foundation for ocular phenotypes and rare eye diseases
Sign Up to like & getrecommendations! Published in 2019 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-018-0980-6
Abstract: BackgroundThe optical accessibility of the eye and technological advances in ophthalmic diagnostics have put ophthalmology at the forefront of data-driven medicine. The focus of this study is rare eye disorders, a group of conditions whose… read more here.
Keywords: ontology; ophthalmology; disease; rare eye ... See more keywords
Potpourri of retinopathies in rare eye disease – A case series
Sign Up to like & getrecommendations! Published in 2022 at "Indian Journal of Ophthalmology"
DOI: 10.4103/ijo.ijo_3002_21
Abstract: This case series describes the ocular and retinal manifestations of rare eye diseases in systemic syndromes. This observational case series consists of five patients with varied ophthalmic manifestations and documentation of imaging in rare pediatric… read more here.
Keywords: series; case series; rare eye; case ... See more keywords