Deep Phenotyping ofPDE6C-Associated Achromatopsia
Investigative Ophthalmology & Visual Science2019Vol. 60(15), pp. 5112–5112
Citations Over TimeTop 10% of 2019 papers
Michalis Georgiou, Anthony G. Robson, Navjit Singh, Nikolas Pontikos, Thomas Kane, Nashila Hirji, Caterina Ripamonti, Tryfon Rotsos, Alfredo Dubra, Angelos Kalitzeos, Andrew R. Webster, Joseph Carroll, Michel Michaelides
Abstract
PDE6C retinopathy is a severe cone dysfunction syndrome often presenting as typical achromatopsia but without foveal hypoplasia. Myopia and slowly progressive maculopathy are common features. There are few (if any) residual foveal cones for intervention in older adults.
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