Cideciyan Lab

  • RPGR Gene Tx

    Long-term rescue of photoreceptors within the retinal region of gene therapy injection but not within the control injection

  • ABCA4 NIR-RAFI

    Ultra-wide-angle near-infrared autofluorescence (NIR-RAFI) imaging captures substantial differences in disease extent not obvious on macular imaging.

  • BCM OCTs

    Abnormal but detectable cone and rod photoreceptor outer segments in blue-cone monochromacy (BCM) demonstrated with optical coherence tomography (OCT).

  • AMD OCTs

    Thinning as well as unexpected thickening of the ONL in paradrusen regions of early AMD eyes.

Welcome

Our group studies disease mechanisms in inherited retinal degenerations (IRDs), and evaluates efficacy and safety of potential treatments. IRDs result in vision loss due to mutations in more than 200 different genes and include diagnoses such as Retinitis Pigmentosa, Stargardt Disease, Leber Congenital Amarousis, and others. There are multitudes of different pathological mechanisms resulting from different mutations. Our group uses non-invasive tests to link changes in retinal structure and function to underlying molecular pathology. We also develop and evaluate novel outcome measures for use in clinical trials.

Jan 16, 2016: Paper published in Ophthalmology

The first report from the ProgStar (Progression of Stargardt Disease) study describing the design and baseline characteristics of patients enrolled into 2 natural history studies was just published. 365 unique patients aged 6 years and older at baseline harboring disease-causing variants in the ABCA4 gene and with specified ocular lesions were enrolled from 9 centers in the United States and Europe. This is the first large multicenter study using reduced-illuminance autofluorescence imaging (RAFI) method developed by the Cideciyan lab. RAFI method allows quantification of atrophy size while using only 25% of the standard amount of light.

Strauss RW, Ho A, Muñoz B, CIDECIYAN AV, Sahel J-A, Sunness JS, Birch DG, Bernstein PS, Michaelides M, Traboulsi EI, Zrenner E, Sadda S, Ervin A-M, West S, Scholl HPN, for the Progression of Stargardt Disease Study Group. The Natural History of the Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Studies: Design and Baseline Characteristics: ProgStar Report No. 1. Ophthalmology (in press), 2016. [PubMed]

© The Trustees of the University of Pennsylvania | Site best viewed in a supported browser. | Site Design: PMACS Web Team.