ArticleThe British journal of ophthalmology2009
Cellular origin of fundus autofluorescence in patients and mice with a defective NR2E3 gene.
Article in The British journal of ophthalmology, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
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Who cites it
40 citing papers in PubMed, 67 citations in OpenAlex.
- Reclassification of a novelOphthalmic genetics · 2026Article
- Outer retinal tubulation associated with photoreceptor degeneration.Progress in retinal and eye research · 2026Review
- A longitudinal study of the 5xFAD mouse retina delineates Amyloid beta (Aβ)-mediated retinal pathology from age-related changes.Alzheimer's research & therapy · 2025Article
- A Narrowband 635 nm Autofluorescence Peak in Albino Mouse Eyes Found With Multi-Modal Imaging Reveals the Presence of Protoporphyrin IX in the Choroid.Investigative ophthalmology & visual science · 2025Article
- X-Linked CGD Chorioretinitis in Two Young Girls.Biomedicines · 2025Article
- Cross-Sectional Analysis of Outer Retinal Tubulation in Inherited Retinal Diseases: A Multicenter Study.American journal of ophthalmology · 2025Article
- The Value of Electroretinography in Identifying Candidate Genes for Inherited Retinal Dystrophies: A Diagnostic Guide.Diagnostics (Basel, Switzerland) · 2023Review
- The Role of Microglia in Inherited Retinal Diseases.Advances in experimental medicine and biology · 2023Article
- Electroretinogram (ERG) to Evaluate the Retina in Cases of Retinitis Pigmentosa (RP).Methods in molecular biology (Clifton, N.J.) · 2023Article
- Disease-causing mutations in genes encoding transcription factors critical for photoreceptor development.Frontiers in molecular neuroscience · 2023Review
- Single cell RNA sequencing confirms retinal microglia activation associated with early onset retinal degeneration.Scientific reports · 2022Article
- Age-Related Retinal Changes in Wild-Type C57BL/6J Mice Between 2 and 32 Months.Investigative ophthalmology & visual science · 2021Article
- Predicting visual acuity in Bietti crystalline dystrophy: evaluation of image parameters.BMC ophthalmology · 2021Article
- Enhanced S-Cone Syndrome: Spectrum of Clinical, Imaging, Electrophysiologic, and Genetic Findings in a Retrospective Case Series of 56 Patients.Ophthalmology. Retina · 2021Article
- Interspecies Correlations between Human and MouseJournal of clinical medicine · 2021Article
- Novel Pathogenic Sequence Variants inGenes · 2020Article
- Novel clinical findings in autosomal recessive NR2E3-related retinal dystrophy.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2019Article
- Bisretinoids mediate light sensitivity resulting in photoreceptor cell degeneration in mice lacking the receptor tyrosine kinase Mer.The Journal of biological chemistry · 2018Article
- Goldmann-Favre Syndrome: Case Series.Turkish journal of ophthalmology · 2018Article
- In Vivo Imaging of Cx3cr1gfp/gfp Reporter Mice with Spectral-domain Optical Coherence Tomography and Scanning Laser Ophthalmoscopy.Journal of visualized experiments : JoVE · 2017Article
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 2 countries.
Funding
Abstract
aimTo characterise new clinical features in a family with enhanced S-cone syndrome (ESCS) and investigate the pathogenesis of these clinical features in the homozygous Nr2e3(rd7) (rd7) mutant mice.
methodsFour patients from an affected family were included for genotypic and phenotypic study. Eye tissues from rd7 mice were used to detect a possible relationship between macrophages and autofluorescent material by immunohistochemistry (IHC) staining.
resultsHomozygous mutation in R311Q in NR2E3 was detected in this family. Colour photographs revealed that white dots do not correlate to hyperautofluorescent spots seen in autofluorescence imaging of the macula. OCT showed rosette-like lesions similar to those found in rd7 mice histology sections. From IHC analysis, we observed that F4/80 (a pan macrophage marker) and autofluorescence were colocalised to the same cells within the retina rosettes.
conclusionsThe retinal structure of a young ESCS patient with homozygous R311Q mutation in the NR2E3 gene is similar to that seen in the rd7 mice. The macrophages were found to contain autofluorescent materials in the retinal rosettes of rd7 mice. These data are consistent with macrophage infiltration contributing to the hyperautofluorescent spots found in our patients.
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