ArticlePloS one2016
Multimodal Imaging of Photoreceptor Structure in Choroideremia.
Article in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers.
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Who cites it
46 citing papers in PubMed, 64 citations in OpenAlex.
- Cone Contrast and Entropy of Adaptive Optics Images in Choroideremia.Current eye research · 2026Article
- Outer retinal tubulation associated with photoreceptor degeneration.Progress in retinal and eye research · 2026Review
- Longitudinal Assessment of Cone Structure, Choriocapillaris, and Retinal Sensitivity in Choroideremia.Investigative ophthalmology & visual science · 2025Article
- Deep compressed multichannel adaptive optics scanning light ophthalmoscope.Science advances · 2025Article
- From Cellular to Metabolic: Advances in Imaging of Inherited Retinal Diseases.Diagnostics (Basel, Switzerland) · 2024Review
- Parafoveal cone function in choroideremia assessed with adaptive optics optoretinography.Scientific reports · 2024Article
- Retinal Imaging Findings in Inherited Retinal Diseases.Journal of clinical medicine · 2024Review
- FOVEAL PHENOTYPES IN CHOROIDEREMIA ON ADAPTIVE OPTICS SCANNING LIGHT OPHTHALMOSCOPY.Retina (Philadelphia, Pa.) · 2024Article
- A proposal for an updated staging system for LCHADD retinopathy.Ophthalmic genetics · 2024Article
- Clinical and Genetic Findings in Korean Patients with Choroideremia.Korean journal of ophthalmology : KJO · 2023Article
- Pearls and Pitfalls of Adaptive Optics Ophthalmoscopy in Inherited Retinal Diseases.Diagnostics (Basel, Switzerland) · 2023Review
- Cone Photoreceptor Morphology in Choroideremia Assessed Using Non-Confocal Split-Detection Adaptive Optics Scanning Light Ophthalmoscopy.Investigative ophthalmology & visual science · 2023Article
- Twenty-five years of clinical applications using adaptive optics ophthalmoscopy [Invited].Biomedical optics express · 2023Review
- Clinical and imaging findings of choroideremia in a pediatric patient due to a novel frameshift mutation.American journal of ophthalmology case reports · 2022Article
- Widespread subclinical cellular changes revealed across a neural-epithelial-vascular complex in choroideremia using adaptive optics.Communications biology · 2022Article
- Automated Assessment of Photoreceptor Visibility in Adaptive Optics Split-Detection Images Using Edge Detection.Translational vision science & technology · 2022Article
- Short-term Assessment of Subfoveal Injection of Adeno-Associated Virus-Mediated hCHM Gene Augmentation in Choroideremia Using Adaptive Optics Ophthalmoscopy.JAMA ophthalmology · 2022Article
- Choroidal Caverns in Stargardt Disease.Investigative ophthalmology & visual science · 2022Article
- Clinical Manifestations and Genetic Analysis of 5 Korean Choroideremia Patients Initially Diagnosed With Retinitis Pigmentosa.Journal of Korean medical science · 2022Article
- Novel Foveal Features Associated With Vision Impairment in Multiple Sclerosis.Investigative ophthalmology & visual science · 2021Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
Abstract
purposeChoroideremia is a progressive X-linked recessive dystrophy, characterized by degeneration of the retinal pigment epithelium (RPE), choroid, choriocapillaris, and photoreceptors. We examined photoreceptor structure in a series of subjects with choroideremia with particular attention to areas bordering atrophic lesions.
methodsTwelve males with clinically-diagnosed choroideremia and confirmed hemizygous mutations in the CHM gene were examined. High-resolution images of the retina were obtained using spectral domain optical coherence tomography (SD-OCT) and both confocal and non-confocal split-detector adaptive optics scanning light ophthalmoscope (AOSLO) techniques.
resultsEleven CHM gene mutations (3 novel) were identified; three subjects had the same mutation and one subject had two mutations. SD-OCT findings included interdigitation zone (IZ) attenuation or loss in 10/12 subjects, often in areas with intact ellipsoid zones; RPE thinning in all subjects; interlaminar bridges in the imaged areas of 10/12 subjects; and outer retinal tubulations (ORTs) in 10/12 subjects. Only split-detector AOSLO could reliably resolve cones near lesion borders, and such cones were abnormally heterogeneous in morphology, diameter and density. On split-detector imaging, the cone mosaic terminated sharply at lesion borders in 5/5 cases examined. Split-detector imaging detected remnant cone inner segments within ORTs, which were generally contiguous with a central patch of preserved retina.
conclusionsEarly IZ dropout and RPE thinning on SD-OCT are consistent with previously published results. Evidence of remnant cone inner segments within ORTs and the continuity of the ORTs with preserved retina suggests that these may represent an intermediate state of retinal degeneration prior to complete atrophy. Taken together, these results supports a model of choroideremia in which the RPE degenerates before photoreceptors.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.