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| Open AccessOptical coherence tomography and optical coherence tomography angiography findings in optic nerve hypoplasia and their relationships with visual acuity
- Min Chae Kang
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| Open AccessLentiviral mediated delivery of CRISPR/Cas9 reduces intraocular pressure in a mouse model of myocilin glaucoma
- Shruti V. Patil
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| Open AccessRelationship between residual visual field and full-field stimulus testing in patients with late-stage retinal degenerative diseases
- Daiki Sakai
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| Open AccessThe temporal progression of retinal degeneration and early-stage idebenone treatment in the Pde6brd1/rd1 mouse model of retinal dystrophy
- Lei Zhang
- , Wei Liu
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| Open AccessProgression of retinitis pigmentosa on static perimetry, optical coherence tomography, and fundus autofluorescence
- Yuhei Iga
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| Open AccessGenetic and clinical characteristics of PROM1-related retinal degeneration in Korean
- Sungsoon Hwang
- , Se Woong Kang
- & Sang Jin Kim
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| Open AccessTargeted adaptive long-read sequencing for discovery of complex phased variants in inherited retinal disease patients
- Kenji Nakamichi
- , Russell N. Van Gelder
- & Debarshi Mustafi
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| Open AccessGenetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy
- Marianthi Karali
- , Francesco Testa
- & Sandro Banfi
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| Open AccessSuture trabeculotomy ab interno for secondary glaucoma in Japanese patients with Val30Met hereditary transthyretin amyloidosis
- Takahiro Kawaji
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| Open AccessOcular morphologic traits in the American Cocker Spaniel may confer primary angle closure glaucoma susceptibility
- Sangwan Park
- , M. Isabel Casanova
- & Sara M. Thomasy
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| Open AccessSingle cell RNA sequencing confirms retinal microglia activation associated with early onset retinal degeneration
- Asha Kumari
- , Raul Ayala-Ramirez
- & Shyamanga Borooah
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| Open AccessCorneal irregularity and visual function using anterior segment optical coherence tomography in TGFBI corneal dystrophy
- Yuito Abe
- , Takashi Omoto
- & Tomohiko Usui
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| Open AccessDrinking hydrogen water improves photoreceptor structure and function in retinal degeneration 6 mice
- Tsutomu Igarashi
- , Ikuroh Ohsawa
- & Hiroshi Takahashi
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| Open AccessCharacterization of SSBP1-related optic atrophy and foveopathy
- Isabelle Meunier
- , Béatrice Bocquet
- & Guy Lenaers
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| Open AccessCystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy
- Pierre-Henry Gabrielle
- , Laurence Faivre
- & Romain Da Costa
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| Open AccessDevelopment and validation of a visual field cluster in retinitis pigmentosa
- Takashi Omoto
- , Akio Oishi
- & Tatsuya Inoue
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| Open AccessCompound heterozygous mutations in TGFBI cause a severe phenotype of granular corneal dystrophy type 2
- Ikhyun Jun
- , Yong Woo Ji
- & Eung Kweon Kim
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| Open AccessNear-infrared fundus autofluorescence alterations correlate with swept-source optical coherence tomography angiography findings in patients with retinitis pigmentosa
- Marco Nassisi
- , Carlo Lavia
- & Isabelle Audo
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| Open AccessGenetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
- Irene Perea-Romero
- , Gema Gordo
- & Carmen Ayuso
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| Open AccessInferred retinal sensitivity in recessive Stargardt disease using machine learning
- Philipp L. Müller
- , Alexandru Odainic
- & Maximilian Pfau
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| Open AccessAb-interno surgical technique for the implantation of a wireless subretinal prosthesis in mini-pigs
- Kwang-Eon Choi
- , Vu Thi Que Anh
- & Seong-Woo Kim
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| Open AccessProgressive optic atrophy in a retinal ganglion cell-specific mouse model of complex I deficiency
- Luyu Wang
- , Mikael Klingeborn
- & Sidney M. Gospe III
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| Open AccessRod function deficit in retained photoreceptors of patients with class B Rhodopsin mutations
- Artur V. Cideciyan
- , Samuel G. Jacobson
- & William A. Beltran
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| Open AccessA novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features
- Daniel R. Evans
- , Jane S. Green
- & Michael O. Woods
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| Open AccessShort-Wavelength and Near-Infrared Autofluorescence in Patients with Deficiencies of the Visual Cycle and Phototransduction
- Jin Kyun Oh
- , Jose Ronaldo Lima de Carvalho Jr.
- & Janet R. Sparrow
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| Open AccessRetinal biomarkers and pharmacological targets for Hermansky-Pudlak syndrome 7
- Giovanni Luca Romano
- , Chiara Bianca Maria Platania
- & Claudio Bucolo
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| Open AccessImpaired DNA-binding affinity of novel PAX6 mutations
- Seowhang Lee
- , Seung-Han Lee
- & Jae-Hwan Choi
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| Open AccessThe majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56
- Basamat Almoallem
- , Gavin Arno
- & Elfride De Baere
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| Open AccessGJA8 missense mutation disrupts hemichannels and induces cell apoptosis in human lens epithelial cells
- Li Li
- , Da-Bei Fan
- & Guang-Ying Zheng
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| Open AccessInvestigation and Restoration of BEST1 Activity in Patient-derived RPEs with Dominant Mutations
- Changyi Ji
- , Yao Li
- & Tingting Yang
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| Open AccessCharacterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophies
- Kei Mizobuchi
- , Takaaki Hayashi
- & Tadashi Nakano
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| Open AccessRats deficient in α-galactosidase A develop ocular manifestations of Fabry disease
- James J. Miller
- , Kazuhiro Aoki
- & Iris S. Kassem
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| Open AccessPropagation and Selectivity of Axonal Loss in Leber Hereditary Optic Neuropathy
- Razek Georges Coussa
- , Pooya Merat
- & Leonard A. Levin
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| Open AccessGlobal computational mutagenesis of domain structures associated with inherited eye disease
- Francisca Wood Ortiz
- & Yuri V. Sergeev
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| Open AccessHyperautofluorescent Dots are Characteristic in Ceramide Kinase Like-associated Retinal Degeneration
- Jesse D. Sengillo
- , Galaxy Y. Cho
- & Stephen H. Tsang
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| Open AccessA pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1
- Karen Grønskov
- , Cathrine Jespersgaard
- & Thomas Rosenberg
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| Open AccessCompound heterozygous splice site variants in the SCLT1 gene highlight an additional candidate locus for Senior-Løken syndrome
- Satoshi Katagiri
- , Takaaki Hayashi
- & Tadashi Nakano
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| Open AccessA new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies
- Maitane Ezquerra-Inchausti
- , Ander Anasagasti
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| Open AccessGenotype determination of the OPN1LW/OPN1MW genes: novel disease-causing mechanisms in Japanese patients with blue cone monochromacy
- Satoshi Katagiri
- , Maki Iwasa
- & Tadashi Nakano
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| Open AccessC2orf71a/pcare1 is important for photoreceptor outer segment morphogenesis and visual function in zebrafish
- Julio C. Corral-Serrano
- , Muriël Messchaert
- & Rob W. J. Collin
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| Open AccessMultimodal imaging including semiquantitative short-wavelength and near-infrared autofluorescence in achromatopsia
- Alexandre Matet
- , Susanne Kohl
- & Isabelle Audo
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| Open AccessClinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy
- Johannes Birtel
- , Tobias Eisenberger
- & Peter Charbel Issa
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| Open AccessA novel small deletion in the NHS gene associated with Nance-Horan syndrome
- Huajin Li
- , Lizhu Yang
- & Ruifang Sui
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| Open AccessRpgrip1 is required for rod outer segment development and ciliary protein trafficking in zebrafish
- Rakesh K. Raghupathy
- , Xun Zhang
- & Xinhua Shu
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| Open AccessStructure-function correlations in Retinitis Pigmentosa patients with partially preserved vision: a voxel-based morphometry study
- Ana Rita Machado
- , Andreia Carvalho Pereira
- & Miguel Castelo-Branco
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| Open AccessA Brain-Derived Neurotrophic Factor Mimetic Is Sufficient to Restore Cone Photoreceptor Visual Function in an Inherited Blindness Model
- Conor Daly
- , Lisa Shine
- & Breandán N. Kennedy
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| Open AccessElectroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients
- Jesse D. Sengillo
- , Thiago Cabral
- & Stephen H. Tsang
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Article
| Open AccessRetrospective Analysis of Structural Disease Progression in Retinitis Pigmentosa Utilizing Multimodal Imaging
- Thiago Cabral
- , Jesse D. Sengillo
- & Stephen H. Tsang
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| Open AccessUnraveling the genetic cause of a consanguineous family with unilateral coloboma and retinoschisis: expanding the phenotypic variability of RAX mutations
- Xiu-Feng Huang
- , Zhi-Qin Huang
- & Yuqin Wang