Bartimeus, Diagnostic Centre for Rare Visual Disorders
Zeist, The Netherlands
Maria van Genderen, MD, PhD, is head of the Bartiméus Diagnostic Center for complex visual disorders, and Professor of Ophthalmology at the University Medical Centre Utrecht. The Bartiméus Diagnostic Center has long standing expertise in the field of visual system disorders, especially in children. The group has developed specialized diagnostic electrophysiologic and eye tracking techniques for use in infants and toddlers with nystagmus. Dr. van Genderen’ s main research interest is in hereditary retinal and optic nerve disease and she is a leading expert on electrophysiology. In 2006, she authored a paper describing for the first time a condition with misrouting and foveal hypoplasia without pigmentation defect, later called FHONDA, and co-authored the paper identifying the FHONDA gene in 2013. Her research group published several papers on albinism and FHONDA, including genotype-phenotype correlations, diagnostic criteria, and electrophysiologic procedures to establish misrouting. She works closely with the ophthalmogenetics department of the University Medical Center Amsterdam (head prof. Arthur Bergen), which does fundamental research on albinism with the use of organoids. She is a scientific consultant for the Dutch organisation for people with albinism and contributed to the patients’ information website and brochures.