Vitrectomy and internal limiting membrane peeling for extensive macular schisis in choroideremia.

Longitudinal and cross-sectional study of retinal phenotypes and visual function in choroideremia carriers: a new grading system.

Identification of Two Novel Mutations in the CHM Gene Causing Choroideremia.

"Hypomorphic splice-site variants in the CHM gene: implications for patient selection and endpoint design in choroideremia gene therapy trials".

Anticodon-edited transfer RNAs (ACE-tRNAs) encoded as therapeutic nonviral minimal DNA vectors.

Severe bilateral retinal degeneration following a twenty-six-year pentosan polysulfate sodium exposure: a case report.

Deficiency disrupts photoreceptor viability and synaptic integrity in a choroideremia mouse model.

Optical coherence tomography-derived biomarkers for disease severity in choroideremia and choroideremia carriers.

Hyperreflective Choroidal Foci: A Comprehensive Review.

Cone contrast sensitivity testing in X-linked retinal diseases: Insights into genotype, sex and disease severity.

One down but many more to go: the state of gene therapy for inherited retinal disease.

Longitudinal Assessment of Cone Structure, Choriocapillaris, and Retinal Sensitivity in Choroideremia.

Progression of Dark-Adapted Visual Fields Over 3 Years in the Rate of Progression in USH2A-Related Retinal Degeneration (RUSH2A) Study.

Patient experience in retinitis pigmentosa and Choroideremia- a concept elicitation study in 17 patients based on qualitative interviews.

Loss of REP-1 in retinal pigment epithelial cells leads to impaired phagosome processing and altered lysosomal pathway function.

RHO-Associated Retinitis Pigmentosa: Genetics, Phenotype, Natural History, Functional Assays, and Animal Model - In Preparation for Clinical Trials.

Advances in Precision Therapeutics and Gene Therapy Applications for Retinal Diseases: Impact and Future Directions.

Fundus Autofluorescence in Inherited Retinal Disease: A Review.

Trends and Disparities in the Incidence and Prevalence of Inherited Retinal Diseases in the United States.

Characterisation and prevalence of inherited retinal diseases in the Finnish population reveals enrichment of population-specific phenotypes and causative variants.

Female Simplex Carriers of X-Linked Retinal Dystrophies: A Case Series.

Nonsense Mutations in Rare and Ultra-Rare Human Disorders: An Overview.

Functional Vision Assessment Over 4 Years in USH2A Using the Veteran Affairs Low-Vision Visual Functioning Questionnaire.

Advancing Therapeutic Strategies for Nonsense-Related Diseases: From Small Molecules to Nucleic Acid-Based Innovations.

Genetic Analysis of Choroideremia-Related Rab Escort Proteins.

Lytic photoreceptor cell death caused by Rab escort protein deficiency in Drosophila.

Clinical Exome-Based Redefinition and Reclassification of Retinitis Pigmentosa.

Ultra-widefield Imaging of Choroidal Blood Flow in Choroideremia.

Frequency and Pattern of Gene Therapy Clinical Trials for Inherited Retinal Diseases.

Gene therapy for choroideremia: progress, potential and pitfalls.

Non-Viral Delivery Systems to Transport Nucleic Acids for Inherited Retinal Disorders.

Novel Splice-Altering Variants in the CHM and CACNA1F Genes Causative of X-Linked Choroideremia and Cone Dystrophy.

Oxidative Stress, Inflammation and Altered Glucose Metabolism Contribute to the Retinal Phenotype in the Choroideremia Zebrafish.

12-year cumulative incidence rate of rare retinal diseases: a nationwide study in Korea.

Development of self-healing hydrogels to support choroidal endothelial cell transplantation for the treatment of early age related macular degeneration.

Retinal Sensitivity in Comparison to Cone Density in Choroideremia.

Ranked Importance of Visual Function Outcome Measures in Choroideremia Clinical Trials.

Retinal Patterns and the Role of Autofluorescence in Choroideremia.

Retinal oxygen metabolic function in choroideremia and retinitis pigmentosa.

Endpoints and Design for Clinical Trials in USH2A-Related Retinal Degeneration: Results and Recommendations From the RUSH2A Natural History Study.

Exploring Scotopic Microperimetry as an Outcome Measure in Choroideremia.

A novel frameshift variant in LAMP2 gene mimicking choroideremia carrier retinopathy.

Measuring X-Chromosome inactivation skew for X-linked diseases with adaptive nanopore sequencing.

A novel large multi-gene deletion in syndromic choroideremia.

Longitudinal assessment of female carriers of choroideremia using multimodal retinal imaging.

Modeling Choroideremia Disease with Isogenic Induced Pluripotent Stem Cells.

Retinal vascular reactivity in carriers of X-linked inherited retinal disease - a study using optical coherence tomography angiography.

Daily Light Onset and Plasma Membrane Tethers Regulate Mitochondria Redistribution within the Retinal Pigment Epithelium.

Investigating the impact of asymmetric macular sensitivity on visual acuity chart reading 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.

Recent advancements and applications of ophthalmic gene therapy strategies: A breakthrough in ocular therapeutics.

Retinal Characteristics of Female Choroideremia Carriers: Multimodal Imaging, Microperimetry, and Genetics.

Reduced Retinal Pigment Epithelial Autophagy Due to Loss of Rab12 Prenylation in a Human iPSC-RPE Model of Choroideremia.

Exploring the impact of Choroideremia on women with phenotypic and/or genotypic evidence of disease: insights from a global survey.

Self-Reported Functional Vision in USH2A-Associated Retinal Degeneration as Measured by the Michigan Retinal Degeneration Questionnaire.

Autosomal recessive leber hereditary optic neuropathy in a choroideremia carrier. A case report.

Parafoveal cone function in choroideremia assessed with adaptive optics optoretinography.

FOVEAL PHENOTYPES IN CHOROIDEREMIA ON ADAPTIVE OPTICS SCANNING LIGHT OPHTHALMOSCOPY.

Posterior Polar Annular Choroidal Dystrophy: Genetic Insights and Differential Diagnosis in Inherited Retinal Diseases.

An approach for state differentiation in nucleic acid circuits: Application to diagnostic DNA computing.

A Prospective, Observational, Non-interventional Clinical Study of Participants With Choroideremia: The NIGHT Study.

A hypomorphic variant of choroideremia is associated with a novel intronic mutation that leads to exon skipping.

Optical coherence tomography in children with inherited retinal disease.

Repair of Rhegmatogenous Retinal Detachment in Choroideremia Secondary to Posterior Extramacular Retinal Hole.

Using Goldmann Visual Field Volume to Track Disease Progression in Choroideremia.

Loss of REP1 impacts choroidal melanogenesis and vasculogenesis in choroideremia.

Safety and Efficacy of Adeno-Associated Viral Gene Therapy in Patients With Retinal Degeneration: A Systematic Review and Meta-Analysis.

Hyperreflective Ganglion Cell Layer Band in Choroideremia.

Gene Augmentation of CHM Using Non-Viral Episomal Vectors in Models of Choroideremia.

Perspectives of carriers of X-linked retinal diseases on genetic testing and gene therapy: A global survey.

Subretinal timrepigene emparvovec in adult men with choroideremia: a randomized phase 3 trial.

Correlation Between Fundus Autofluorescence Pattern and Retinal Function on Microperimetry in Choroideremia.

Choroideremia: The Endpoint Endgame.

Oxidative and Endoplasmic Reticulum Stress Represent Novel Therapeutic Targets for Choroideremia.

PNPLA6 disorders: what's in a name?

Cell-based Therapies for Corneal and Retinal Disorders.

Choroideremia presenting as vision loss secondary to choroidal neovascularization.

Cone Photoreceptor Morphology in Choroideremia Assessed Using Non-Confocal Split-Detection Adaptive Optics Scanning Light Ophthalmoscopy.

AAV Serotypes and Their Suitability for Retinal Gene Therapy.

Female carriers of X-linked inherited retinal diseases - Genetics, diagnosis, and potential therapies.

Pars Plana Vitrectomy in Inherited Retinal Diseases: A Comprehensive Review of the Literature.

Night blindness and hearing loss associated with choroideremia.

Clinical and Genetic Findings in Korean Patients with Choroideremia.

A versatile laser-induced porcine model of outer retinal and choroidal degeneration for preclinical testing.

Choroideremia: Toward Regulatory Approval of Retinal Gene Therapy.

Microperimetry Reliability Assessed From Fixation Performance.

Clinical Applications of Optical Coherence Tomography Angiography in Inherited Retinal Diseases: An Up-to-Date Review of the Literature.

Gene-agnostic approaches to treating inherited retinal degenerations.

Motion-selective areas V5/MT and MST appear resistant to deterioration in choroideremia.

Macular Neovascularization in Choroideremia.

Ubiquitylation of BBSome is required for ciliary assembly and signaling.

AAV2-Mediated Gene Therapy for Choroideremia: 5-Year Results and Alternate Anti-sense Oligonucleotide Therapy.

Use of the Medmont Dark-Adapted Chromatic Perimeter for Assessing Rod Function in Retinitis Pigmentosa.

Evaluation of CRISPR/Cas9 exon-skipping vector for choroideremia using human induced pluripotent stem cell-derived RPE.

A generation of human-induced pluripotent stem cell line (MUi032-A) from a Choroideremia disease patient carrying a hemizygous mutation on the CHM gene.

DANON DISEASE: A MODEL OF PHOTORECEPTOR DEGENERATION SECONDARY TO PRIMARY RETINAL PIGMENT EPITHELIUM DISEASE.

Clinical and imaging findings of choroideremia in a pediatric patient due to a novel frameshift mutation.

Glial remodeling and choroidal vascular pathology in eyes from two donors with Choroideremia.

Widespread subclinical cellular changes revealed across a neural-epithelial-vascular complex in choroideremia using adaptive optics.

Non-vasogenic cystoid maculopathies.

A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report.

Choroideremia Carriers: Dark-Adapted Perimetry and Retinal Structures.

The genetic counseling in a patient affected by choroideremia solved with the whole-exome sequencing approach.

Newer therapeutic options for inherited retinal diseases: Gene and cell replacement 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.

Rapid Quantification of the Binocular Visual Field for Clinical Trials: Performance of a Modified Esterman Supra-Threshold Test Implemented with the Open Perimetry Interface.

Automated Assessment of Photoreceptor Visibility in Adaptive Optics Split-Detection Images Using Edge Detection.

[Genetic diagnosis of 3 families with choroideremia].

Single-cell-resolution map of human retinal pigment epithelium helps discover subpopulations with differential disease sensitivity.

Multimodal imaging reveals retinoschisis masquerading as retinal detachment in patients with choroideremia.

Choroideremia: molecular mechanisms and therapies.

Short-term Assessment of Subfoveal Injection of Adeno-Associated Virus-Mediated hCHM Gene Augmentation in Choroideremia Using Adaptive Optics Ophthalmoscopy.

Clinical and genetic findings in a Chinese cohort with choroideremia.

Outer retinal and choriocapillaris modifications in choroideremia: three differentially impaired retinal regions and the potential diagnostic role of the external limiting membrane.

Lessons learned from research on choroideremia.

Long-read technologies identify a hidden inverted duplication in a family with choroideremia.

Clinical Manifestations and Genetic Analysis of 5 Korean Choroideremia Patients Initially Diagnosed With Retinitis Pigmentosa.

Bilateral visual acuity decline in males with choroideremia: a pooled, cross-sectional meta-analysis.

Generation of a human induced pluripotent stem cell line PUMCHi017-A from a Choroideremia patient with CHM mutation.

The safety and efficacy of gene therapy treatment for monogenic retinal and optic nerve diseases: A systematic review.

Gyrate Atrophy of the Choroid and Retina: A Review.

An In Silica Model for RPE Loss Patterns in Choroideremia.

Gene Therapy in Inherited Retinal Diseases: An Update on Current State of the Art.

Structural and Functional Characteristics of Color Vision Changes in Choroideremia.

Lamellar Hole-associated Epiretinal Proliferation in choroideremia: a case report.

Choroidal Vascularity Index in CHM Carriers.

Molecular Therapy for Choroideremia: Pre-clinical and Clinical Progress to Date.

CHML targeted by miR-199a-3p promotes non-small cell lung cancer cell growth via binding to Rab5A.

Choroideremia Gene Therapy.

Gene therapy for inherited retinal diseases.

Precision Medicine Trials in Retinal Degenerations.

The coincidence of two ultra-rare hereditary eye diseases: gyrate atrophy and Kjer optic atrophy - a surprising diagnosis based on next-generation sequencing.

Molecular Characterization of Choroideremia-Associated Deletions Reveals an Unexpected Regulation of CHM Gene Transcription.

Therapy Approaches for Stargardt Disease.

US Health Resource Utilization and Cost Burden Associated with Choroideremia.

Whole-exome sequencing identified a novel mutation in CHM of a Chinese family.

Expression of Rab Prenylation Pathway Genes and Relation to Disease Progression in Choroideremia.

Validating Ellipsoid Zone Area Measurement With Multimodal Imaging in Choroideremia.

Comparing Fluorescence Lifetime Imaging Ophthalmoscopy in Atrophic Areas of Retinal Diseases.

Microperimetry Hill of Vision and Volumetric Measures of Retinal Sensitivity.

Is subretinal AAV gene replacement still the only viable treatment option for choroideremia?

Tackling the Challenges of Product Development Through a Collaborative Rare Disease Network: The Foundation Fighting Blindness Consortium.

Low Luminance Visual Acuity and Low Luminance Deficit in Choroideremia and RPGR-Associated Retinitis Pigmentosa.

Retinal imaging in inherited retinal diseases.

Choroidal neovascularisation in a predicted female choroideraemia carrier treated with intravitreal anti-vascular endothelial growth factor.

Integrating adaptive optics-SLO and OCT for multimodal visualization of the human retinal pigment epithelial mosaic.

REP1 deficiency causes systemic dysfunction of lipid metabolism and oxidative stress in choroideremia.

An optometrist's guide to the top candidate inherited retinal diseases for gene therapy.

OCT angiography for the diagnosis and management of choroidal neovascularization secondary to choroideremia.

Choroidal Vascularity Features in Patients with Choroideremia and Cystoid Spaces.

Study of retinal structural-functional relationship in choroideremia using fundus autofluorescence and optical coherence tomography.

Chronic untreated retinal detachment in a patient with choroideremia provides insight into the disease process and potential therapy.

CHM mutation spectrum and disease: An update at the time of human therapeutic trials.

A novel phenotype in a family with autosomal dominant retinal dystrophy due to c.1430A > G in retinoid isomerohydrolase (RPE65) and c.37C > T in bestrophin 1 (BEST1).

Update on Gene Therapy Clinical Trials for Choroideremia and Potential Experimental Therapies.

Longitudinal Study to Assess the Quantitative Use of Fundus Autofluorescence for Monitoring Disease Progression in Choroideremia.

Zebrafish Models of Photoreceptor Dysfunction and Degeneration.

Surgical Observations From the First 120 Cases of Subretinal Gene Therapy for Inherited Retinal Diseases.

PERIPHERAL OPTICAL COHERENCE TOMOGRAPHY FINDINGS IN A CHOROIDEREMIA CARRIER.

Current Clinical Applications of In Vivo Gene Therapy with AAVs.

Properties and Therapeutic Implications of an Enigmatic D477G RPE65 Variant Associated with Autosomal Dominant Retinitis Pigmentosa.

Chronically shortened rod outer segments accompany photoreceptor cell death in Choroideremia.

Novel variants in PNPLA6 causing syndromic retinal dystrophy.

Expanding the genetic spectrum of choroideremia in an Australian cohort: report of five novel CHM variants.

Fluorescence Lifetime Imaging Ophthalmoscopy (FLIO) in Patients with Choroideremia.

Retinal Manifestations of Mitochondrial Oxidative Phosphorylation Disorders.

A UNILATERAL FOVEAL VITELLIFORM LESION IN A CHOROIDEREMIA CARRIER.

Genetic defects of CHM and visual acuity outcome in 24 choroideremia patients from 16 Japanese families.

Association of a Novel Intronic Variant in RPGR With Hypomorphic Phenotype of X-Linked Retinitis Pigmentosa.

A putative frameshift variant in the CHM gene is associated with an unexpected splicing alteration in a choroideremia patient.

Genetic testing for inherited eye conditions in over 6,000 individuals through the eyeGENE network.

The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies.

Cone Identification in Choroideremia: Repeatability, Reliability, and Automation Through Use of a Convolutional Neural Network.

Autofluorescence in female carriers with choroideremia: A familial case with a novel mutation in the CHM gene.

Quantification of RPE Changes in Choroideremia Using a Photoshop-Based Method.

CHOROIDAL VASCULARITY INDEX IN YOUNG CHOROIDEREMIA PATIENTS.

Acquired retinoschisis and vitreous hemorrhage as unusual findings in choroideremia: Case report.

Perspectives on Gene Therapy: Choroideremia Represents a Challenging Model for the Treatment of Other Inherited Retinal Degenerations.

[Chorioretinal atrophy in pediatric cerebral folate deficiency-a preventable disease?].

Reduced vessel density in deep capillary plexus correlates with retinal layer thickness in choroideremia.

Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9-year period.

Next-generation sequencing-based clinical diagnosis of choroideremia and comprehensive mutational and clinical analyses.

Long-term natural history of visual acuity in eyes with choroideremia: a systematic review and meta-analysis of data from 1004 individual eyes.

Prospective deep phenotyping of choroideremia patients using multimodal structure-function approaches.

A novel SVA retrotransposon insertion in the CHM gene results in loss of REP-1 causing choroideremia.

Low-contrast visual acuity versus low-luminance visual acuity in choroideremia.

Whole exome sequencing of a family revealed a novel variant in the CHM gene, c.22delG p.(Glu8Serfs*4), which co-segregated with choroideremia.

Long-term Natural History of Atrophy in Eyes with Choroideremia-A Systematic Review and Meta-analysis of Individual-Level Data.

Optical Coherence Tomography Angiography (OCT-A) in Choroideremia (CHM) carriers.

Synonymous Variant in the CHM Gene Causes Aberrant Splicing in Choroideremia.

Gene Therapy Approaches to a Rare Retinal Disease: Choroideremia.

Phenotypic expansion of autosomal dominant retinitis pigmentosa associated with the D477G mutation in RPE65.

Progress in the development of novel therapies for choroideremia.

En face OCT in choroideremia.

CLINICAL CHARACTERISTICS AND MOLECULAR GENETIC ANALYSIS OF A COHORT OF CHINESE PATIENTS WITH CHOROIDEREMIA.