PhD defence A.E.G. (Annet) Haarman

Focusing on High Myopia – genetic causes and phenotypic outcome
Promotor
Prof.dr. C.C.W. Klaver
Co-promotor
Dr. V.J.M. Verhoeven
Date
Wednesday 5 Oct 2022, 15:30 - 17:00
Type
PhD defence
Space
Professor Andries Querido room
Building
Education Center
Location
Erasmus MC
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On Wednesday 5 October 2022, A.E.G. Haarman will defend her PhD dissertation, entitled: ‘Focusing on High Myopia – genetic causes and phenotypic outcome’.

Dissertation in short:

Myopia is a refractive error in which the light rays entering the eye are focused in front of the retinal plane leading to blurred vision. It is a highly common ocular condition caused by axial elongation of the eye, i.e. the eye is too long. High myopia is the more severe form of this refractive error often defined as an axial length > 26 mm or a refractive error <-6 Diopters. Myopia can be easily corrected with glasses or contact lenses. At adult age, however, myopia can lead to irreversible visual impairment and blindness caused by myopic macular degeneration, primary open-angle glaucoma, cataract and retinal detachment. Myopia is caused by a complex interplay between genetic and environmental factors, but the exact etiology was not completely understood. Myopia is a highly genetic trait which means that the becoming myopic is highly determined by genetic factors. Although many genetic factors have been identified in previous years, they only explain a small proportion. This is called the missing heritability.

The main objectives of this thesis were: 1. To investigate the clinical burden of mild, moderate and severe myopia; 2. To describe the current knowledge on the genetic background of myopia and to assess whether the missing heritability can be explained by variants in known ocular disease genes; 3. To assess the role of rare genetic variants using different genetic techniques; and 4. To explore the role of GJD2 in myopia development and its impact on ocular biometry. To answer these research questions, we combined several study populations with a wide age range and different ancestries. We included The Rotterdam Study (a population based Dutch cohort study), the Myopia Study (a high myopia case-control study), Generation R (a multi-ethnic populationbased prospective birth cohort study) and several population-based multi-ancestry cohort studies from the Consortium for Refractive Error and Myopia (CREAM).

More information

The public defence will begin exactly at 15.30 hrs. The doors will be closed once the public defence starts, latecomers can access the hall via the fourth floor. Due to the solemn nature of the ceremony, we recommend that you do not take children under the age of 6 to the first part of the ceremony.

A live stream link has been provided to the candidate

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