ArticleThe British journal of ophthalmology2018
Phenotypic diversity in autosomal-dominant cone-rod dystrophy elucidated by adaptive optics retinal imaging.
Article in The British journal of ophthalmology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 27 citations in OpenAlex.
- Review
- Characteristics of Rare Inherited Retinal Dystrophies in Adaptive Optics-A Study on 53 Eyes.Diagnostics (Basel, Switzerland) · 2023Article
- Pearls and Pitfalls of Adaptive Optics Ophthalmoscopy in Inherited Retinal Diseases.Diagnostics (Basel, Switzerland) · 2023Review
- Extracting spacing-derived estimates of rod density in healthy retinae.Biomedical optics express · 2023Article
- Evaluation of retinal function and morphology in isoametropic amblyopia.Indian journal of ophthalmology · 2023Article
- Twenty-five years of clinical applications using adaptive optics ophthalmoscopy [Invited].Biomedical optics express · 2023Review
- Short-term Assessment of Subfoveal Injection of Adeno-Associated Virus-Mediated hCHM Gene Augmentation in Choroideremia Using Adaptive Optics Ophthalmoscopy.JAMA ophthalmology · 2022Article
- Patches of Dysflective Cones in Eyes With No Known Disease.Investigative ophthalmology & visual science · 2022Article
- Adaptive optics: principles and applications in ophthalmology.Eye (London, England) · 2021Review
- Retinal imaging in inherited retinal diseases.Annals of eye science · 2020Article
- Cellular imaging of inherited retinal diseases using adaptive optics.Eye (London, England) · 2019Review
- High-Resolution Adaptive Optics in Vivo Autofluorescence Imaging in Stargardt Disease.JAMA ophthalmology · 2019Article
- Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy.The British journal of ophthalmology · 2019Review
- Adaptive optics imaging of the human retina.Progress in retinal and eye research · 2019Review
- Automated identification of cone photoreceptors in adaptive optics optical coherence tomography images using transfer learning.Biomedical optics express · 2018Article
- Translation of CRISPR Genome Surgery to the Bedside for Retinal Diseases.Frontiers in cell and developmental biology · 2018Review
Corrections and comments
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Authors and funding
7 authors at 5 institutions in 5 countries.
Funding
Abstract
purposeSeveral genes causing autosomal-dominant cone-rod dystrophy (AD-CRD) have been identified. However, the mechanisms by which genetic mutations lead to cellular loss in human disease remain poorly understood. Here we combine genotyping with high-resolution adaptive optics retinal imaging to elucidate the retinal phenotype at a cellular level in patients with AD-CRD harbouring a defect in the
methodsNine affected members of a four-generation AD-CRD pedigree and three unaffected first-degree relatives underwent clinical examinations including visual acuity, fundus examination, Goldmann perimetry, spectral domain optical coherence tomography and electroretinography. Genome-wide scan followed by bidirectional sequencing was performed on all affected participants. High-resolution imaging using a custom adaptive optics scanning light ophthalmoscope (AOSLO) was performed for selected participants.
resultsClinical evaluations showed a range of disease severity from normal fundus appearance in teenaged patients to pronounced macular atrophy in older patients. Molecular genetic testing showed a mutation in in
conclusionsAOSLO imaging demonstrated variability in the pattern of cone and rod cell loss between two teenage cousins with early AD-CRD, who had similar clinical features and had the identical disease-causing mutation in
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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.