Publicaties
An in vitro enzymatic assay to elucidate the VUS problem in RPE65, a target for retinal gene therapy Universiteit Gent
In 2017 and 2018, Luxturna received FDA and EMA approval as the first gene therapy product to treat patients with biallelic RPE65-mutations, causing severe inherited blindness. Eligibility for gene therapy requires a complete molecular diagnosis, which is often hampered by the identification of variants of uncertain significance (VUS), which have insufficient evidence concerning their pathogenicity. Given the role of RPE65 in the visual cycle ...
Restoration of cone sensitivity to individuals with congenital photoreceptor blindness within the phase 1/2 sepofarsen trial Universiteit Gent
Evaluation of visual outcome following cataract surgery in patients with retinitis pigmentosa Universiteit Gent
An in vitro enzymatic assay to elucidate the VUS problem in RPE65, a target for retinal gene therapy Universiteit Gent
Background Inherited retinal diseases (IRDs) are a clinically and genetically heterogenous group of disorders leading to early-onset vision loss. RPE65 is a known IRD disease gene, encoding a crucial enzyme of the visual cycle that is important for preserving vision. In 2017-2018, Luxturna received FDA and EMA approval, respectively, as first gene therapy to treat IRD patients with biallelic mutations in RPE65. Therapeutic eligibility however ...
A virtual reality orientation and mobility test for inherited retinal degenerations : testing a proof-of-concept after gene therapy Universiteit Gent
The phenotypic spectrum of patients with PHARC syndrome due to variants in ABHD12 : an ophthalmic perspective Universiteit Gent
Comparative natural history of visual function from patients with biallelic variants in BBS1 and BBS10 Universiteit Gent
The need for widely available genomic testing in rare eye diseases : an ERN-EYE position statement Universiteit Gent
BackgroundRare Eye Diseases (RED) are the leading cause of visual impairment and blindness for children and young adults in Europe. This heterogeneous group of conditions includes over 900 disorders ranging from relatively prevalent disorders such as retinitis pigmentosa to very rare entities such as developmental eye anomalies. A significant number of patients with RED have an underlying genetic etiology. One of the aims of the European ...