Member info
Dr Jaume Català Mora
Substitute
Spain
Working Group(s): Retinal Rare Eye Diseases (WG1), Pediatric Ophthalmology Rare Diseases (WG3), Registries & Epidemiology (TWG7), Research (TWG8), CPMS & Digital Medecine (TWG10)
Team
Dr Marta Morales Ballús
Spain
Anterior Segment Rare Eye Diseases (WG4), CPMS & Digital Medecine (TWG10), Genetic Diagnostics (TWG6), National Integration (TWG9), Pediatric Ophthalmology Rare Diseases (WG3), Registries & Epidemiology (TWG7), Research (TWG8)
Dr Elisa Carreras
Spain
CPMS & Digital Medecine (TWG10), Genetic Diagnostics (TWG6), National Integration (TWG9), Pediatric Ophthalmology Rare Diseases (WG3), Registries & Epidemiology (TWG7), Research (TWG8), Retinal Rare Eye Diseases (WG1)
Dr Itziar Alonso
Spain
CPMS & Digital Medecine (TWG10), Neuro-Ophthalmology Rare Diseases (WG2), Research (TWG8), Retinal Rare Eye Diseases (WG1)
Dr Isabel Ayet
Spain
CPMS & Digital Medecine (TWG10), Pediatric Ophthalmology Rare Diseases (WG3), Research (TWG8)
Dr Ester Casas
Spain
CPMS & Digital Medecine (TWG10), Pediatric Ophthalmology Rare Diseases (WG3), Research (TWG8)
Optometrist Ana Díaz
Spain
CPMS & Digital Medecine (TWG10), Low Vision Daily Life and Patients Groups (TWG5), Research (TWG8)
Dr Jesús Díaz
Spain
CPMS & Digital Medecine (TWG10), Pediatric Ophthalmology Rare Diseases (WG3), Research (TWG8), Retinal Rare Eye Diseases (WG1)
Optometrist Enric Puigventos
Spain
CPMS & Digital Medecine (TWG10), Low Vision Daily Life and Patients Groups (TWG5), Research (TWG8)
Optometrist Carles Fresno
Spain
CPMS & Digital Medecine (TWG10), Low Vision Daily Life and Patients Groups (TWG5), Research (TWG8)
Dr Carmen García Vicuña
Spain
CPMS & Digital Medecine (TWG10), Pediatric Ophthalmology Rare Diseases (WG3), Research (TWG8)
Dr Hugo Gonzalez
Spain
CPMS & Digital Medecine (TWG10), Pediatric Ophthalmology Rare Diseases (WG3), Research (TWG8)
Optometrist Enrique Jimenez
Spain
CPMS & Digital Medecine (TWG10), Low Vision Daily Life and Patients Groups (TWG5), Research (TWG8)
Dr Ana Llorca
Spain
Anterior Segment Rare Eye Diseases (WG4), CPMS & Digital Medecine (TWG10), Pediatric Ophthalmology Rare Diseases (WG3), Registries & Epidemiology (TWG7), Research (TWG8)
Dr Antonio Federico Martinez Monstseny
Spain
CPMS & Digital Medecine (TWG10), Research (TWG8)
Dr Joan Prat
Spain
CPMS & Digital Medecine (TWG10), Neuro-Ophthalmology Rare Diseases (WG2), Pediatric Ophthalmology Rare Diseases (WG3), Registries & Epidemiology (TWG7), Research (TWG8)
Dr Gemma Romeu
Spain
CPMS & Digital Medecine (TWG10), Neuro-Ophthalmology Rare Diseases (WG2), Pediatric Ophthalmology Rare Diseases (WG3), Registries & Epidemiology (TWG7), Research (TWG8)
Dr Alicia Serra
Spain
Anterior Segment Rare Eye Diseases (WG4), CPMS & Digital Medecine (TWG10), Pediatric Ophthalmology Rare Diseases (WG3), Registries & Epidemiology (TWG7), Research (TWG8)
Optometrist Simone Suh
Spain
CPMS & Digital Medecine (TWG10), Low Vision Daily Life and Patients Groups (TWG5), Research (TWG8)
Dr Mariona Vidal
Spain
CPMS & Digital Medecine (TWG10), Neuro-Ophthalmology Rare Diseases (WG2), Pediatric Ophthalmology Rare Diseases (WG3), Registries & Epidemiology (TWG7), Research (TWG8)
Optometrist Begoña Yeste
Spain
CPMS & Digital Medecine (TWG10), Low Vision Daily Life and Patients Groups (TWG5), Research (TWG8)
Dr Núria Planas
Spain
Anterior Segment Rare Eye Diseases (WG4), CPMS & Digital Medecine (TWG10), Pediatric Ophthalmology Rare Diseases (WG3), Registries & Epidemiology (TWG7), Research (TWG8)
HCP Center
SJD Barcelona Children's Hospital is a private, non-profit institution that is dedicated to public service. It is a member of the Hospitaller Order...
contact
Hospital Sant Joan de Déu, Spain
Passeig de Sant Joan de Déu, 2
8950 Esplugues de Llobregat, Barcelona
Spain
Scientific publications
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia
We provide extensive in silico analyses and summarize reported functional data of previously analyzed missense, nonsense and splicing variants to...
The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy
Using parsimonious assumptions, we reconstructed the composition and copy number of the OPN1LW/ OPN1MW gene cluster prior to the mutation event...