Do you want to read an article? Please log in or register.
Detailed clinical characterisation, unique features and natural history of autosomal recessive RDH12-associated retinal degeneration
Retinal Diseases
Related content
Macular DiseasesRetinal Diseases
Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration
JAMA Ophthalmol.
Ku CA, Hull S, Arno G, Vincent A, Carss K, Kayton R, Weeks D, Anderson GW, Geraets R, Parker C, Pearce DA, Michaelides M, MacLaren RE, Robson AG, Holder GE, Heon E, Raymond FL, Moore AT, Webster AR, Pennesi ME
doi: 10.1001/
Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa
Mol Vis.
Fiorentino A, Yu J, Arno G, Pontikos N, Halford S, Broadgate S, Michaelides M, Carss KJ, Raymond FL, Cheetham ME, Webster AR, Downes SM, Hardcastle AJ; NIHR-BioResource Rare Diseases Consortium; U.K. Inherited Retinal Dystrophy Consortium
Macular Diseases
Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis Pigmentosa.
JAMA Ophthalmol.
Hull S, Attanasio M, Arno G, Carss K, Robson AG, Thompson DA, Plagnol V, Michaelides M, Holder GE, Henderson RH, Raymond FL, Moore AT, Webster AR
doi: 10.1001/
RECOMMENDED
Macular DiseasesRetinal Diseases
Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations
★ 2
Recommended by
PD Dr Moreno Menghini, Faculty Member
doi: 10.1001/jamaophthalmol.2020.0666.
Macular DiseasesRetinal Diseases
Retinal pigment epithelial features indicative of neovascular progression in age-related macular degeneration
Br J Ophthalmol.
Roberts PK, Baumann B, Schlanitz FG, Sacu S, Bolz M, Pircher M, Hagmann M, Hitzenberger CK, Schmidt-Erfurth U
doi: 10.1136/bjophthalmol-
COMMENTED
Retinal Diseases
Analysis of Pathogenic Variants Correctable With CRISPR Base Editing Among Patients With Recessive Inherited Retinal Degeneration
★ 2
Recommended and commented by
Dr habil. Gábor Márk Somfai, PhD, Faculty Member
JAMA Ophthalmol
Fry LE, McClements ME, MacLaren RE
doi: 10.1001/jamaophthalmol.2020.6418
Macular Diseases
Outer retinal tubulation formation and clinical course of advanced age-related macular degeneration
Sci Rep
Arrigo A, Aragona E, Battaglia O, Saladino A, Amato A, Borghesan F, Pina A, Calcagno F, Hassan Farah R, Bandello F, Battaglia Parodi M
doi: 10.1038/s41598-021-94310-5
Macular DiseasesRetinal Diseases
Incomplete Retinal Pigment Epithelial and Outer Retinal Atrophy in Age-Related Macular Degeneration: Classification of Atrophy Meeting Report 4
Ophthalmology.
Guymer RH, Rosenfeld PJ, Curcio CA, Holz FG, Staurenghi G, Freund KB, Schmitz-Valckenberg S, Sparrow J, Spaide RF, Tufail A, Chakravarthy U, Jaffe GJ, Csaky K, Sarraf D, Monés JM, Tadayoni R, Grunwald J, Bottoni F, Liakopoulos S, Pauleikhoff D, Pagliarini S, Chew EY, Viola F, Fleckenstein M, Blodi BA, Lim TH, Chong V, Lutty J, Bird AC, Sadda SR
doi: 10.1016/j.ophtha.2019.09.035.
Retinal Diseases
Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease
Ophthalmology.
Taylor RL, Parry NR, Barton SJ, Campbell C, Delaney CM, Ellingford JM, Hall G, Hardcastle C, Morarji J, Nichol EJ, Williams LC, Douzgou S, Clayton-Smith J, Ramsden SC, Sharma V, Biswas S, Lloyd IC, Ashworth JL, Black GC, Sergouniotis PI