• <em>PNPLA6</em> disorders: what's in a name?
• A generation of human-induced pluripotent stem cell line (MUi032-A) from a Choroideremia disease patient carrying a hemizygous mutation on the CHM gene
• A hypomorphic variant of choroideremia is associated with a novel intronic mutation that leads to exon skipping
• A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could <em>CHM</em> In-Frame Variants Exert a Dominant Negative Effect? A Case Report
• A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report
• A Prospective, Observational, Non-interventional Clinical Study of Participants With Choroideremia: The NIGHT Study
• A Prospective, Observational, Noninterventional Clinical Study of Participants With Choroideremia: The NIGHT Study
• A versatile laser-induced porcine model of outer retinal and choroidal degeneration for preclinical testing
• AAV Serotypes and Their Suitability for Retinal Gene Therapy
• AAV2-Mediated Gene Therapy for Choroideremia: 5-Year Results and Alternate Anti-sense Oligonucleotide Therapy
• Adeno-Associated Virus Serotype 2-hCHM Subretinal Delivery to the Macula in Choroideremia: Two-Year Interim Results of an Ongoing Phase I/II Gene Therapy Trial
• An approach for state differentiation in nucleic acid circuits: Application to diagnostic DNA computing
• An In Silica Model for RPE Loss Patterns in Choroideremia
• An Open-Label Phase II Study Assessing the Safety of Bilateral, Sequential Administration of Retinal Gene Therapy in Participants with Choroideremia: The GEMINI Study
• Automated Assessment of Photoreceptor Visibility in Adaptive Optics Split-Detection Images Using Edge Detection
• Autosomal recessive leber hereditary optic neuropathy in a choroideremia carrier. A case report
• Bilateral visual acuity decline in males with choroideremia: a pooled, cross-sectional meta-analysis
• Boosting the thermal management performance of a PCM-based module using novel metallic pin fin geometries: Numerical study
• Cell-based Therapies for Corneal and Retinal Disorders
• CHML targeted by miR-199a-3p promotes non-small cell lung cancer cell growth via binding to Rab5A
• Choroidal Vascularity Index in CHM Carriers
• Choroideremia Carriers: Dark-Adapted Perimetry and Retinal Structures
• Choroideremia Gene Therapy
• Choroideremia presenting as vision loss secondary to choroidal neovascularization
• Choroideremia: molecular mechanisms and therapies
• Choroideremia: The Endpoint Endgame
• Choroideremia: Toward Regulatory Approval of Retinal Gene Therapy
• Clinical and genetic findings in a Chinese cohort with choroideremia
• Clinical and Genetic Findings in Korean Patients with Choroideremia
• Clinical and imaging findings of choroideremia in a pediatric patient due to a novel frameshift mutation
• Clinical Applications of Optical Coherence Tomography Angiography in Inherited Retinal Diseases: An Up-to-Date Review of the Literature
• Clinical Manifestations and Genetic Analysis of 5 Korean Choroideremia Patients Initially Diagnosed With Retinitis Pigmentosa
• Comment on Di Giosaffatte et al. A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could <em>CHM</em> In-Frame Variants Exert a Dominant Negative Effect? A Case Report. <em>Genes</em> 2022, <em>13</em>, 1
• Comment on Di Giosaffatte et al. A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report. Genes 2022, 13, 1268
• Cone Photoreceptor Morphology in Choroideremia Assessed Using Non-Confocal Split-Detection Adaptive Optics Scanning Light Ophthalmoscopy
• Correlation Between Fundus Autofluorescence Pattern and Retinal Function on Microperimetry in Choroideremia
• Daily Light Onset and Plasma Membrane Tethers Regulate Mitochondria Redistribution within the Retinal Pigment Epithelium
• DANON DISEASE: A MODEL OF PHOTORECEPTOR DEGENERATION SECONDARY TO PRIMARY RETINAL PIGMENT EPITHELIUM DISEASE
• Editorial: Women in retina: 2022
• Evaluation of CRISPR/Cas9 exon-skipping vector for choroideremia using human induced pluripotent stem cell-derived RPE
• Exploring the impact of Choroideremia on women with phenotypic and/or genotypic evidence of disease: insights from a global survey
• Female carriers of X-linked inherited retinal diseases - Genetics, diagnosis, and potential therapies
• FOVEAL PHENOTYPES IN CHOROIDEREMIA ON ADAPTIVE OPTICS SCANNING LIGHT OPHTHALMOSCOPY
• Gene Augmentation of CHM Using Non-Viral Episomal Vectors in Models of Choroideremia
• Gene therapy for choroideremia using an adeno-associated viral vector encoding Rab escort protein 1: the REGENERATE open-label trial
• Gene therapy for inherited retinal diseases
• Gene Therapy in Inherited Retinal Diseases: An Update on Current State of the Art
• Gene-agnostic approaches to treating inherited retinal degenerations
• Generation of a human induced pluripotent stem cell line PUMCHi017-A from a Choroideremia patient with CHM mutation
• Genetic diagnosis of 3 families with choroideremia
• Glial remodeling and choroidal vascular pathology in eyes from two donors with Choroideremia
• Gyrate Atrophy of the Choroid and Retina: A Review
• Hyperreflective Ganglion Cell Layer Band in Choroideremia
• Investigating the impact of asymmetric macular sensitivity on visual acuity chart reading in choroideraemia
• Investigating the impact of asymmetric macular sensitivity on visual acuity chart reading in choroideremia
• Lamellar Hole-associated Epiretinal Proliferation in choroideremia: a case report
• Lessons learned from research on choroideremia
• Long-read technologies identify a hidden inverted duplication in a family with choroideremia
• Longitudinal assessment of female carriers of choroideremia using multimodal retinal imaging
• Loss of REP1 impacts choroidal melanogenesis and vasculogenesis in choroideremia
• Macular neovascularisation in inherited retinal diseases: A review
• Macular Neovascularization in Choroideremia
• Macular neovascularization in inherited retinal diseases: A review
• Microperimetry Reliability Assessed From Fixation Performance
• Modeling Choroideremia Disease with Isogenic Induced Pluripotent Stem Cells
• Molecular Therapy for Choroideremia: Pre-clinical and Clinical Progress to Date
• Motion-selective areas V5/MT and MST appear resistant to deterioration in choroideremia
• Multimodal imaging reveals retinoschisis masquerading as retinal detachment in patients with choroideremia
• Newer therapeutic options for inherited retinal diseases: Gene and cell replacement therapy
• Night blindness and hearing loss associated with choroideremia
• Non-vasogenic cystoid maculopathies
• Optical coherence tomography in children with inherited retinal disease
• Outer retinal and choriocapillaris modifications in choroideremia: three differentially impaired retinal regions and the potential diagnostic role of the external limiting membrane
• Oxidative and Endoplasmic Reticulum Stress Represent Novel Therapeutic Targets for Choroideremia
• Parafoveal cone function in choroideremia assessed with adaptive optics optoretinography
• Pars Plana Vitrectomy in Inherited Retinal Diseases: A Comprehensive Review of the Literature
• Perspectives of carriers of X-linked retinal diseases on genetic testing and gene therapy: A global survey
• Posterior Polar Annular Choroidal Dystrophy: Genetic Insights and Differential Diagnosis in Inherited Retinal Diseases
• Rapid Quantification of the Binocular Visual Field for Clinical Trials: Performance of a Modified Esterman Supra-Threshold Test Implemented with the Open Perimetry Interface
• Recent advancements and applications of ophthalmic gene therapy strategies: A breakthrough in ocular therapeutics
• Reduced Retinal Pigment Epithelial Autophagy Due to Loss of Rab12 Prenylation in a Human iPSC-RPE Model of Choroideremia
• Repair of Rhegmatogenous Retinal Detachment in Choroideremia Secondary to Posterior Extramacular Retinal Hole
• Repair of Rhegmatogenous Retinal Detachment in Choroideremia Secondary to Posterior Extramacular Retinal Hole
• Reply to Fry, L.E.; MacLaren, R.E. Comment on "Di Giosaffatte et al. A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could <em>CHM</em> In-Frame Variants Exert a Dominant Negative Effect? A Case Report. <em>Genes&lt
• Reply to Fry, L.E.; MacLaren, R.E. Comment on "Di Giosaffatte et al. A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report. Genes 2022, 13, 1268"
• Retinal characteristics of female choroideremia carriers: Multimodal imaging, microperimetry and genetics
• Retinal Characteristics of Female Choroideremia Carriers: Multimodal Imaging, Microperimetry, and Genetics
• Retinal vascular reactivity in carriers of X-linked inherited retinal disease - a study using optical coherence tomography angiography
• Safety and Efficacy of Adeno-Associated Viral Gene Therapy in Patients With Retinal Degeneration: A Systematic Review and Meta-Analysis
• Self-Reported Functional Vision in USH2A-Associated Retinal Degeneration as Measured by the Michigan Retinal Degeneration Questionnaire
• Short-term Assessment of Subfoveal Injection of Adeno-Associated Virus-Mediated hCHM Gene Augmentation in Choroideremia Using Adaptive Optics Ophthalmoscopy
• Single-cell-resolution map of human retinal pigment epithelium helps discover subpopulations with differential disease sensitivity
• Structural and Functional Characteristics of Color Vision Changes in Choroideremia
• Subretinal timrepigene emparvovec in adult men with choroideremia: a randomized phase 3 trial
• The genetic counseling in a patient affected by choroideremia solved with the whole-exome sequencing approach
• The safety and efficacy of gene therapy treatment for monogenic retinal and optic nerve diseases: A systematic review
• Ubiquitylation of BBSome is required for ciliary assembly and signaling
• Use of the Medmont Dark-Adapted Chromatic Perimeter for Assessing Rod Function in Retinitis Pigmentosa
• Using Goldmann Visual Field Volume to Track Disease Progression in Choroideremia
• Widespread subclinical cellular changes revealed across a neural-epithelial-vascular complex in choroideremia using adaptive optics