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Macular Diseases

Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum

Invest Ophthalmol Vis Sci.

Verbakel SK, van Huet RAC, den Hollander AI, Geerlings MJ, Kersten E, Klevering BJ, Klaver CCW, Plomp AS, Wesseling NL, Bergen AAB, Nikopoulos K, Rivolta C, Ikeda Y, Sonoda KH, Wada Y, Boon CJF, Nakazawa T, Hoyng CB, Nishiguchi KM

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Macular DiseasesRetinal Diseases

Extending the Spectrum of EYS-Associated Retinal Disease to Macular Dystrophy

Invest Ophthalmol Vis Sci.

Pierrache LHM, Messchaert M, Thiadens AAHJ, Haer-Wigman L, de Jong-Hesse Y, van Zelst-Stams WAG, Collin RWJ, Klaver CCW, van den Born LI

doi: 10.1167/iovs.18-25531.

Macular Diseases

Higher retinal vessel oxygen saturation: investigating its relationship with macular oedema in retinitis pigmentosa patients

Eye (Lond).

Bojinova RI, Schorderet DF, Valmaggia C, Türksever C, Schoetzau A, Todorova MG

doi: 10.1038/s41433-018-0043-1.

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

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

Macular DiseasesRetinal Diseases

North Carolina macular dystrophy shows a particular drusen phenotype and atrophy progression

Br J Ophthalmol

Birtel J, Gliem M, Herrmann P, Neuhaus C, Holz FG, MacLaren RE, Scholl HPN, Charbel Issa P

doi: 10.1136/bjophthalmol-2021-318815

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

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/

Macular Diseases

Benign Yellow Dot Maculopathy: A New Macular Phenotype

Ophthalmology.

Borman AD, Rachitskaya A, Suzani M, Sisk RA, Ahmed ZM, Holder GE, Cipriani V, Arno G, Webster AR, Hufnagel RB, Berrocal A, Moore AT

doi: 10.1016/

Related content

Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum

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