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Publications Archives - Page 2 of 6 - ProgStar
Publications
A list of ProgStar updates, news and publications, as well as publications relevant to STGD by ProgStar study investigators.
For a list of all published ProgStar study reports please click here.
A video of a presentation by HPN Scholl (including ppt slides ) and a summary of the main ProgStar study results may be found here.
To compare grading results between short-wavelength reduced-illuminance and conventional autofluorescence imaging in Stargardt macular dystrophy. Read More…
Clinical reassessment resulted in refinement of the clinical diagnosis in some of these families and confirmed the broad clinical spectrum associated with mutations in RD genes. Read More…
The present review outlines recent advances in therapies for retinal degenerative disease, focusing on the progress and challenges in the development and clinical translation of gene and cell therapies. Read More…
To evaluate manual and semiautomated grading techniques for assessing decreased fundus autofluorescence (DAF) in patients with Stargardt disease phenotype. Read More…
To estimate disease progression based on analysis of macular volume measured by spectral-domain optical coherence tomography (SD-OCT) in patients affected by Stargardt macular dystrophy (STGD1) and to evaluate the influence of software errors on these measurements. Read More…
Mutations in the ABCA4 gene are a common cause of autosomal recessive retinal degeneration. All mouse models to date are based on knockouts of Abca4, even though the disease is often caused by missense mutations such as the complex allele L541P;A1038V (PV). We now show that the PV mutation causes severe human disease whereas the V mutation alone causes mild disease. Read More…
To assess the genotypic diversity in patients with Stargardt disease and to characterise epidemiological and genotypic predictors of phenotype. Read More…
To characterize subtypes of fundus autofluorescence (AF) and the progression of retinal atrophy, and correlate these findings with genotype in Stargardt disease Read More…