Report From the Second Global Scientific Conference on Clinical Trial Design and Outcome Measures for RDH12-Associated Inherited Retinal Degeneration

Author:

Cerolini Silvia1,Bennett Jean2,Leroy Bart P.3,Durham Todd4,Coates Courtney5,Pletcher Mathew T.6,Lacey Sue7,Aleman Tomas S.2

Affiliation:

1. Eyes on the Future, London, UK

2. Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA

3. Department of Ophthalmology and Center for Medical Genetics, Ghent University Hospital and Department of Head & Skin, Ghent University, Ghent, Belgium

4. Foundation Fighting Blindness, Columbia, MD, USA

5. Hope in Focus, Ledyard, CT, USA

6. RDH12 Fund for Sight, Boiling Springs, SC, USA

7. Astraea Medical Consulting, Hindhead, UK

Publisher

Association for Research in Vision and Ophthalmology (ARVO)

Reference38 articles.

1. Report from a workshop on accelerating the development of treatments for inherited retinal dystrophies associated with mutations in the RDH12 gene;Sofia;Transl Vis Sci Technol,2020

2. Phenotypic variability of recessive Rdh12-associated retinal dystrophy;Zou;Retina,2019

3. RDH12 retinopathy: novel mutations and phenotypic description;Mackay;Mol Vis,2011

4. The genetic profile of Leber congenital amaurosis in an Australian cohort;Thompson;Mol Genet Genomic Med,2017

5. Detailed clinical characterisation, unique features and natural history of autosomal recessive RDH12-associated retinal degeneration;Fahim;Br J Ophthalmol,2019

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