Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy
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DOI: 10.1038/s41598-018-22096-0
Abstract: Macular and cone/cone-rod dystrophies (MD/CCRD) demonstrate a broad genetic and phenotypic heterogeneity, with retinal alterations solely or predominantly involving the central retina. Targeted next-generation sequencing (NGS) is an efficient diagnostic tool for identifying mutations in… read more here.
Keywords: 251 consecutive; cone cone; cone rod; cone ... See more keywords
Short-Wavelength Sensitive Cone (S-cone) Testing as an Outcome Measure for NR2E3 Clinical Treatment Trials
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DOI: 10.3390/ijms20102497
Abstract: Recessively-inherited NR2E3 gene mutations cause an unusual retinopathy with abnormally-increased short-wavelength sensitive cone (S-cone) function, in addition to reduced rod and long/middle-wavelength sensitive cone (L/M-cone) function. Progress toward clinical trials to treat patients with this… read more here.
Keywords: sensitive cone; short wavelength; cone cone; wavelength sensitive ... See more keywords
Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies
Sign Up to like & getrecommendations! Published in 2019 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms20194854
Abstract: Phenotypes observed in a large cohort of patients with cone and cone-rod dystrophies (COD/CORDs) are described based on multimodal retinal imaging features in order to help in analyzing massive next-generation sequencing data. Structural abnormalities of… read more here.
Keywords: underlying genetic; genetic defects; rod dystrophies; cone cone ... See more keywords