Primary and secondary focal choroidal excavation morphologic phenotypes, associated ocular disorders and prognostic implications

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.

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/

Further Publications

The ocular phenotype in primary hyperoxaluria type 1

Am J Ophthalmol.

Birtel J, Herrmann P, Garrelfs SF, Dulz S, Atiskova Y, Diederen RM, Gliem M, Brinkert F, Holz FG, Boon CJF, Hoppe B, Issa PC

doi: 10.1016/j.ajo.2019.04.036.

Glaucoma and Ocular PressureOcular Oncology

Central Visual Field Damage and Parapapillary Choroidal Microvasculature Dropout in Primary Open-Angle Glaucoma

Ophthalmology.

Lee EJ, Kim TW, Kim JA, Kim JA

doi: 10.1016/j.ophtha.2017.10.036.

Further Publications

Intravitreal anti-VEGF treatment for choroidal neovascularization secondary to traumatic choroidal rupture

BMC Ophthalmol.

Barth T, Zeman F, Helbig H, Gamulescu MA

doi: 10.1186/s12886-019-1242-7.

Glaucoma and Ocular PressureOcular Oncology

Long-term evaluation of ocular hypertension with primary angle closure and primary open angles

Int Ophthalmol.

Sihota R, Selvan H, Sharma A, Gupta A, Gupta V, Dada T, Upadhyay AD

doi: 10.1007/s10792-018-0872-8.

Macular Diseases

Association Between the Cilioretinal Artery and Choroidal Neovascularization in Age-Related Macular Degeneration: A Secondary Analysis From the Age-Related Eye Disease Study

JAMA Ophthalmol.

Snyder K, Yazdanyar A, Mahajan A, Yiu G

doi: 10.1001/jamaophthalmol.

Macular Diseases

Spectrum of choroidal neovascularisation associated with dome-shaped macula

Br J Ophthalmol.

Marchese A, Arrigo A, Sacconi R, Querques L, Prascina F, Pierro L, Bandello F, Querques G

doi: 10.1136/bjophthalmol-2018-312780.

Retinal Diseases

Association of Messenger RNA Level With Phenotype in Patients With Choroideremia: Potential Implications for Gene Therapy Dose

JAMA Ophthalmol.

Fry LE, Patrício MI, Williams J, Aylward JW, Hewitt H, Clouston P, Xue K, Barnard AR, MacLaren RE

doi: 10.1001/jamaophthalmol.2019.5071.

Related content

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

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

The ocular phenotype in primary hyperoxaluria type 1

Central Visual Field Damage and Parapapillary Choroidal Microvasculature Dropout in Primary Open-Angle Glaucoma

Intravitreal anti-VEGF treatment for choroidal neovascularization secondary to traumatic choroidal rupture

Long-term evaluation of ocular hypertension with primary angle closure and primary open angles

Association Between the Cilioretinal Artery and Choroidal Neovascularization in Age-Related Macular Degeneration: A Secondary Analysis From the Age-Related Eye Disease Study

Spectrum of choroidal neovascularisation associated with dome-shaped macula

Association of Messenger RNA Level With Phenotype in Patients With Choroideremia: Potential Implications for Gene Therapy Dose