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

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

doi: 10.1167/iovs.18-26084.

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 Diseases

A Deep Phenotype Association Study Reveals Specific Phenotype Associations with Genetic Variants in Age-related Macular Degeneration: Age-Related Eye Disease Study 2 (AREDS2) Report No. 14

Ophthalmology.

van Asten F, Simmons M, Singhal A, Keenan TD, Ratnapriya R, Agrón E, Clemons TE, Swaroop A, Lu Z, Chew EY; Age-Related Eye Disease Study 2 Research Group

doi: 10.1016/j.ophtha.

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.

Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy

JAMA Ophthalmol.

Taylor RL, Arno G, Poulter JA, Khan KN, Morarji J, Hull S, Pontikos N, Rueda Martin A, Smith KR, Ali M, Toomes C, McKibbin M, Clayton-Smith J, Grunewald S, Michaelides M, Moore AT, Hardcastle AJ, Inglehearn CF, Webster AR, Black GC; UK Inherited Retinal Disease Consortium and the 100,000 Genomes Project

doi: 10.1001/

Retinal Diseases

Association of Disorganization of Retinal Inner Layers With Visual Acuity Response to Anti–Vascular Endothelial Growth Factor Therapy for Macular Edema Secondary to Retinal Vein Occlusion

JAMA Ophthalmol.

Babiuch AS, Han M, Conti FF, Wai K, Silva FQ, Singh RP

doi: 10.1001/jamaophthalmol.

Macular Diseases

The Association of Aspirin Use with Age-Related Macular Degeneration Progression in the Age-Related Eye Disease Studies: Age-Related Eye Disease Study 2 Report No. 20

Ophthalmology.

Keenan TD, Wiley HE, Agrón E, Aronow ME, Christen WG, Clemons TE, Chew EY, Age-Related Eye Disease Study and Age-Related Eye Disease Study 2 Research Groups.

doi: 10.1016/j.ophtha.2019.06.023.

Retinal Diseases

Reanalysis of Association of Pro50Leu Substitution in Guanylate Cyclase Activating Protein-1 With Dominant Retinal Dystrophy

JAMA Ophthalmol.

Mahroo OA, Arno G, Ba-Abbad R, Downes SM, Bird A, Webster AR

doi: 10.1001/jamaophthalmol.2019.4959.

Retinal DiseasesFurther Publications

High-Throughput Sequencing to Identify Mutations Associated with Retinal Dystrophies

Genes (Basel)

Song F, Owczarek-Lipska M, Ahmels T, Book M, Aisenbrey S, Menghini M, Barthelmes D, Schrader S, Spital G, Neidhardt J

doi: 10.3390/genes12081269

Related content

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

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

A Deep Phenotype Association Study Reveals Specific Phenotype Associations with Genetic Variants in Age-related Macular Degeneration: Age-Related Eye Disease Study 2 (AREDS2) Report No. 14

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

Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy

Association of Disorganization of Retinal Inner Layers With Visual Acuity Response to Anti–Vascular Endothelial Growth Factor Therapy for Macular Edema Secondary to Retinal Vein Occlusion

The Association of Aspirin Use with Age-Related Macular Degeneration Progression in the Age-Related Eye Disease Studies: Age-Related Eye Disease Study 2 Report No. 20

Reanalysis of Association of Pro50Leu Substitution in Guanylate Cyclase Activating Protein-1 With Dominant Retinal Dystrophy

High-Throughput Sequencing to Identify Mutations Associated with Retinal Dystrophies