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| 36908234 | Typical best vitelliform dystrophy secondary to biallelic variants in BEST1. | Ophthalmic Genet | 2024 |
| 37806544 | IMPG2-Related Maculopathy. | Am J Ophthalmol | 2024 |
| 37806543 | RBP3-Retinopathy-Inherited High Myopia and Retinal Dystrophy: Genetic Characterization, Natural History, and Deep Phenotyping. | Am J Ophthalmol | 2024 |
| 37714431 | Clinical and Genetic Characterization of RDH12-Retinal Dystrophy in a South American Cohort. | Ophthalmol Retina | 2024 |
| 37848076 | Diagnostic Odyssey of More than 1000 Patients with Inherited Retinal Diseases. | Ophthalmology | 2024 |
| 37940365 | Stargardt macular dystrophy and therapeutic approaches. | Br J Ophthalmol | 2024 |
| 37979600 | Progression of PROM1-Associated Retinal Degeneration as Determined by Spectral-Domain Optical Coherence Tomography Over a 24-Month Period. | Am J Ophthalmol | 2024 |
| 37977507 | RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History in a Large Cohort of Female Carriers. | Am J Ophthalmol | 2024 |
| 37080590 | Deep phenotyping of PROM1-associated retinal degeneration. | Br J Ophthalmol | 2024 |
| 36084042 | Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies. | Hum Mol Genet | 2023 |
| 37852740 | <i>KCNV2</i>-associated retinopathy: genotype-phenotype correlations - <i>KCNV2</i> study group report 3. | Br J Ophthalmol | 2023 |
| 37544434 | Coats-like Vasculopathy in Inherited Retinal Disease: Prevalence, Characteristics, Genetics, and Management. | Ophthalmology | 2023 |
| 37868789 | Visual Acuity by Decade in 139 Males with <i>RPGR</i>-Associated Retinitis Pigmentosa. | Ophthalmol Sci | 2023 |
| 37493686 | Multimorbidity due to novel pathogenic variants in the <i>WFS1/RP1/NOD2</i> genes: autosomal dominant congenital lamellar cataract, retinitis pigmentosa and Crohn's disease in a British family. | BMJ Open Ophthalmol | 2023 |
| 35661646 | Clinical outcomes of a trifocal compared with an extended depth of focus IOL following bilateral cataract surgery. | Can J Ophthalmol | 2023 |
| 37160501 | Artificial intelligence in retinal disease: clinical application, challenges, and future directions. | Graefes Arch Clin Exp Ophthalmol | 2023 |
| 37422204 | Detailed Clinical, Ophthalmic, and Genetic Characterization of ADGRV1-Associated Usher Syndrome. | Am J Ophthalmol | 2023 |
| 37217489 | Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina. | NPJ Genom Med | 2023 |
| 37188525 | <i>RPGR</i>-Related Retinopathy: Clinical Features, Molecular Genetics, and Gene Replacement Therapy. | Cold Spring Harb Perspect Med | 2023 |
| 36948373 | Change in Cone Structure Over 24 Months in USH2A-Related Retinal Degeneration. | Am J Ophthalmol | 2023 |
| 37342033 | An Analysis of the Effect of ABCA4 p.Asn1868Ile Genotypes on Retinal Structure in 26,558 Participants in the UK Biobank. | Invest Ophthalmol Vis Sci | 2023 |
| 37172884 | First-in-Human Gene Therapy Trial of AAV8-hCARp.hCNGB3 in Adults and Children With CNGB3-associated Achromatopsia. | Am J Ophthalmol | 2023 |
| 37333224 | Neuropathy target esterase activity predicts retinopathy among <i>PNPLA6</i> disorders. | bioRxiv | 2023 |
| 37331655 | CERKL-Associated Retinal Dystrophy: Genetics, Phenotype, and Natural History. | Ophthalmol Retina | 2023 |
| 37331482 | Prognostication in Stargardt Disease Using Fundus Autofluorescence: Improving Patient Care. | Ophthalmology | 2023 |
| 36423731 | RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History. | Ophthalmology | 2023 |
| 36764427 | Progression of Stargardt Disease as Determined by Fundus Autofluorescence Over a 24-Month Period (ProgStar Report No. 17). | Am J Ophthalmol | 2023 |
| 36764426 | Static Perimetry in the Rate of Progression in USH2A-related Retinal Degeneration (RUSH2A) Study: Assessment Through 2 Years. | Am J Ophthalmol | 2023 |
| 36940949 | Can artificial intelligence accelerate the diagnosis of inherited retinal diseases? Protocol for a data-only retrospective cohort study (Eye2Gene). | BMJ Open | 2023 |
| 36669873 | EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders. | J Med Genet | 2023 |
| 36038193 | Genetic treatment for autosomal dominant inherited retinal dystrophies: approaches, challenges and targeted genotypes. | Br J Ophthalmol | 2023 |
| 36099972 | CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History. | Am J Ophthalmol | 2023 |
| 36162969 | Inherited causes of combined vision and hearing loss: clinical features and molecular genetics. | Br J Ophthalmol | 2023 |
| 36322320 | No strong evidence to date for an association between RIMS1 and retinal dystrophy. | Doc Ophthalmol | 2023 |
| 34031043 | Novel disease-causing variant in <i>RDH12</i> presenting with autosomal dominant retinitis pigmentosa. | Br J Ophthalmol | 2022 |
| 35444239 | Lateral gain is impaired in macular degeneration and can be targeted to restore vision in mice. | Nat Commun | 2022 |
| 35736209 | A recurrent variant in <i>LIM2</i> causes an isolated congenital sutural/lamellar cataract in a Japanese family. | Ophthalmic Genet | 2022 |
| 35704304 | Axial Length Distributions in Patients With Genetically Confirmed Inherited Retinal Diseases. | Invest Ophthalmol Vis Sci | 2022 |
| 35469785 | WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease Progression. | Am J Ophthalmol | 2022 |
| 35759666 | The landscape of submicroscopic structural variants at the <i>OPN1LW/OPN1MW</i> gene cluster on Xq28 underlying blue cone monochromacy. | Proc Natl Acad Sci U S A | 2022 |
| 35491887 | RDH12 retinopathy: clinical features, biology, genetics and future directions. | Ophthalmic Genet | 2022 |
| 36685715 | SynthEye: Investigating the Impact of Synthetic Data on Artificial Intelligence-assisted Gene Diagnosis of Inherited Retinal Disease. | Ophthalmol Sci | 2022 |
| 36178783 | Phenotyping of ABCA4 Retinopathy by Machine Learning Analysis of Full-Field Electroretinography. | Transl Vis Sci Technol | 2022 |
| 36301530 | Foveal Cone Structure in Patients With Blue Cone Monochromacy. | Invest Ophthalmol Vis Sci | 2022 |
| 36388727 | RNA-based therapies in inherited retinal diseases. | Ther Adv Ophthalmol | 2022 |
| 36118280 | <i>IMPG2</i>-associated unilateral adult onset vitelliform macular dystrophy. | Am J Ophthalmol Case Rep | 2022 |
| 36084639 | Investigation of PTC124-mediated translational readthrough in a retinal organoid model of AIPL1-associated Leber congenital amaurosis. | Stem Cell Reports | 2022 |
| 36007554 | Baseline Microperimetry and OCT in the RUSH2A Study: Structure-Function Association and Correlation With Disease Severity. | Am J Ophthalmol | 2022 |
| 35947379 | Dominant Cone Rod Dystrophy, Previously Assigned to a Missense Variant in RIMS1, Is Fully Explained by Co-Inheritance of a Dominant Allele of PROM1. | Invest Ophthalmol Vis Sci | 2022 |
| 33741584 | Treatments for dry age-related macular degeneration: therapeutic avenues, clinical trials and future directions. | Br J Ophthalmol | 2022 |