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Research group/lab  |  Prof. C.C.W. Klaver

Ophthalmogenetics

The ophthalmogenetic consultations focus on the spectrum of inherited and congenital ophthalmologic disorders.

About our research group/lab

Our research

Background information

We would like to support patients referred from peripheral hospitals or low-vision clinics as well as their families as best as possible.

We work in a multi-disciplinary setting and closely collaborate with clinical geneticists, clinical neuro-physiologists, and with pediatricians in case of a syndromal work-up. This is essential for counseling and family and providing life-style advices.

Overall aim

We aim to optimize the diagnostic process, offer appropriate treatments, include patients in ongoing studies, and counsel patients and family. The ophthalmogenetic clinic conducts several research projects and collaborates in multiple clinical trials.

Reseach focus areas

Inherited retinal diseases (IRDs) represent a clinical and genetic heterogeneous group with an estimated prevalence of 1 in 10,000 to less than 1 in a million, depending on the genetic defect. Data from sizable populations are needed for meaningful genotype-phenotype analyses for rare genetic conditions.

We register ophthalmologic data of all patients with IRDs into one Dutch national database (RD5000) The RD5000 database has the potential to grow into a European standard for the registration of IRS data. So far we have included data of more than 1000 patients and started natural history and prevalence studies.

Our projects

Our research projects are performed in collaboration with the Rotterdam Eye Hospital and focus on natural history studies on genetic eye diseases.

  • Genetic epidemiological studies of retinitis pigmentosa - insights translated into clinical practice.
  • Identification of children in the Netherlands with retinal dystrophy for future gene-specific treatments.

Collaborations

Collaborations within Erasmus MC

  • Department of Genetics and Congenital Defects.
  • Department of Clinical Genetics.
  • Department of Neurology.

Our team

  • Ophthalmologist: Dr A.A.H.J. Thiadens, rotating residents
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  • Orthoptist: Mrs. E. Tan, Mrs. M. Telleman
  • Specialised support for Goldmann: Mevr. E. Albrecht
  • Additioal support staff: Technical optician’s assistants
    Nursing staff and administration: Mrs. M. Bernaerts
  • Clinical Neurophysiology: Dr S. Arends
  • Clinical Genetics: Dr J.A Kievit, Dr E.H. Hoefsloot, Dr V.J.M. Verhoeven
  • Post-Doc researcher, Prof. C.C.W. Klaver
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  • PI-research, Dr M.A. Meester-Smoor
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  • PhD-student: Mrs. L.H. Pierrache MSc
  • Master-student: M. Vermeer