Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis Pigmentosa.

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

Blindness and Vision Impairment

Olfactory Dysfunction in Patients With CNGB1-Associated Retinitis Pigmentosa

JAMA Ophthalmol.

Charbel Issa P Reuter P, Kühlewein L, Birtel J, Gliem M, Tropitzsch A, Whitcroft KL, Bolz HJ, Ishihara K, MacLaren RE, Downes SM, Oishi A, Zrenner E, Kohl S, Hummel T

doi: 10.1001/jamaophthalmol.

Blindness and Vision Impairment

Effect of Oral Valproic Acid vs Placebo for Vision Loss in Patients With Autosomal Dominant Retinitis Pigmentosa: A Randomized Phase 2 Multicenter Placebo-Controlled Clinical Trial

JAMA Ophthalmol.

Birch DG, Bernstein PS, Iannacone A, Pennesi ME, Lam BL, Heckenlively J, Csaky K, Hartnett ME, Winthrop KL, Jayasundera T, Hughbanks-Wheaton DK, Warner J, Yang P, Fish GE, Teske MP, Sklaver NL, Erker L, Chegarnov E, Smith T, Wahle A, VanVeldhuisen PC, McCormack J, Lindblad R, Bramer S, Rose S, Zilliox P, Francis PJ, Weleber RG

doi: 10.1001/jamaophthalmol.

Retinal Diseases

Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial

JAMA Ophthalmol

Kuehlewein L, Zobor D, Andreasson SO, Ayuso C, Banfi S, Bocquet B, Bernd AS, Biskup S, Boon CJF, Downes SM, Fischer MD, Holz FG, Kellner U, Leroy BP, Meunier I, Nasser F, Rosenberg T, Rudolph G, Stingl K, Thiadens AAHJ, Wilhelm B, Wissinger B, Zrenner E, Kohl S, Weisschuh N, RD-CURE Consortium.

doi: 10.1001/jamaophthalmol.2020.4206

Retinal Diseases

Detailed clinical characterisation, unique features and natural history of autosomal recessive RDH12-associated retinal degeneration

Br J Ophthalmol.

Fahim AT, Bouzia Z, Branham KH, Kumaran N, Vargas ME, Feathers KL, Perera ND, Young K, Khan NW, Heckenlively JR, Webster AR, Pennesi ME, Ali RR, Thompson DA, Michaelides M

doi: 10.1136/bjophthalmol-

Retinal Diseases

Intraocular cytokine profile and autoimmune reactions in retinitis pigmentosa, age-related macular degeneration, glaucoma and cataract

Acta Ophthalmol.

Ten Berge JC, Fazil Z, van den Born I, Wolfs RCW, Schreurs MWJ, Dik WA, Rothova A

doi: 10.1111/aos.13899.

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

Peripheral Retinal Changes Associated with Age-Related Macular Degeneration in the Age-Related Eye Disease Study 2: Age-Related Eye Disease Study 2 Report Number 12 by the Age-Related Eye Disease Study 2 Optos PEripheral RetinA (OPERA) Study Research Group

Ophthalmology.

Writing Committee for the OPTOS PEripheral RetinA (OPERA) study (Ancillary Study of Age-Related Eye Disease Study 2), Domalpally A, Clemons TE, Danis RP, Sadda SR, Cukras CA, Toth CA, Friberg TR, Chew EY

doi: 10.1016/j.ophtha.2016.12.004.

Macular DiseasesRetinal Diseases

Expanding the retinal phenotype of RP1: from retinitis pigmentosa to a novel and singular macular dystrophy

Br J Ophthalmol.

Riera M, Abad-Morales V, Navarro R, Ruiz-Nogales S, Méndez-Vendrell P, Corcostegui B, Pomares E

doi: 10.1136/bjophthalmol-2018-313672.

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Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa

Olfactory Dysfunction in Patients With CNGB1-Associated Retinitis Pigmentosa

Effect of Oral Valproic Acid vs Placebo for Vision Loss in Patients With Autosomal Dominant Retinitis Pigmentosa: A Randomized Phase 2 Multicenter Placebo-Controlled Clinical Trial

Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial

Detailed clinical characterisation, unique features and natural history of autosomal recessive RDH12-associated retinal degeneration

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Peripheral Retinal Changes Associated with Age-Related Macular Degeneration in the Age-Related Eye Disease Study 2: Age-Related Eye Disease Study 2 Report Number 12 by the Age-Related Eye Disease Study 2 Optos PEripheral RetinA (OPERA) Study Research Group

Expanding the retinal phenotype of RP1: from retinitis pigmentosa to a novel and singular macular dystrophy