About the Authors

Fiona Blanco-Kelly

Contributed equally to this work with: Fiona Blanco-Kelly, María García Hoyos

Affiliations Genetic´s Department, Instituto de Investigación Sanitaria-Fundación Jimenez Diaz University Hospital (IIS-FJD, UAM), Madrid, Spain, Center of Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain

María García Hoyos

Contributed equally to this work with: Fiona Blanco-Kelly, María García Hoyos

Affiliation Instituto de Medicina Genómica (IMEGEN), Valencia, Spain

Miguel Angel Lopez Martinez

Affiliation Genetic´s Department, Instituto de Investigación Sanitaria-Fundación Jimenez Diaz University Hospital (IIS-FJD, UAM), Madrid, Spain

Maria Isabel Lopez-Molina

Affiliation Department of Ophthalmology, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital (IIS-FJD, UAM), Madrid, Spain

Rosa Riveiro-Alvarez

Affiliations Genetic´s Department, Instituto de Investigación Sanitaria-Fundación Jimenez Diaz University Hospital (IIS-FJD, UAM), Madrid, Spain, Center of Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain

Patricia Fernandez-San Jose

Affiliations Genetic´s Department, Instituto de Investigación Sanitaria-Fundación Jimenez Diaz University Hospital (IIS-FJD, UAM), Madrid, Spain, Center of Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain

Almudena Avila-Fernandez

Affiliations Genetic´s Department, Instituto de Investigación Sanitaria-Fundación Jimenez Diaz University Hospital (IIS-FJD, UAM), Madrid, Spain, Center of Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain

Marta Corton

Affiliations Genetic´s Department, Instituto de Investigación Sanitaria-Fundación Jimenez Diaz University Hospital (IIS-FJD, UAM), Madrid, Spain, Center of Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain

Jose M. Millan

Affiliations Center of Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain, Grupo de Investigación en Biomedicina Molecular, Celular y Genómica, Instituto de Investigación Sanitaria La Fe (IIS-La Fe), Valencia, Spain, Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario y Politécnico La Fe, Valencia, Spain

Blanca García Sandoval

Affiliation Department of Ophthalmology, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital (IIS-FJD, UAM), Madrid, Spain

Carmen Ayuso

cayuso@fjd.es

Affiliations Genetic´s Department, Instituto de Investigación Sanitaria-Fundación Jimenez Diaz University Hospital (IIS-FJD, UAM), Madrid, Spain, Center of Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

Conceived and designed the experiments: MGH FBK RRA CA. Performed the experiments: MALM PFSJ. Analyzed the data: FBK PFSJ AAF MGH BGS MILM CA. Contributed reagents/materials/analysis tools: MALM AAF PFSJ. Wrote the paper: FBK PFSJ RRA JMM CA. Ophthalmologic data evaluation: MILM BGS FBK. Population genetics analysis: JMM FBK MC PFSJ.