Choroidal Neovascularization Clinical Trial
Official title:
Identification of the Predisposing Genetic Factors of Idiopathic Polypoidal Vasculopathies in the ATM Gene (Ataxia Telangiectasia Mutated)
Polypoidal choriodal vasculopathy (PCV) is an ophthalmologic disease, characterized by
vascular abnormalities of the walls of small choroidal vessels, reproducing the specific
aspect of polyps (cluster aspect). PCV is one of the "boundary-forms" of age related macular
degeneration.
These vasculopathies can be idiopathic. Following the radiotherapy treatments of active and
occult-typed neovessels in Age-Related Macular Degeneration (ARMD), 10% of the patients would
present typical polypoidal vasculopathic lesions. These polypoidal secondary lesions have
been induced by radiotherapy treatment and may show an increased sensibility to radiation in
these patients.
Such an increase of radiosensibility is noticed in ataxia telangiectasia syndrome, in
relation to the ATM gene mutations. The secondary or idiopathic polypoidal vasculopathic
lesions are to be brought closer to telangiectasias in Ataxia Telangiectasia. Considering the
iatrogenic component of radiotherapy in the secondary forms of ataxia telangiectasia, it
seems legitimate to search for predisposing variants to polypoidal vasculopathies in the ATM
gene.
Considering the frequency of PCV worldwide, it seems important to identify the predisposing
genetic factors of the ATM gene. These biomarkers to the pathology might enable us to offer
prevention (reinforced protection against radiations, including light) and to develop
therapeutics (recruitment of other kinases, ATM's partners, in the stability and cellular
control of DNA).
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