ArticleOphthalmic surgery, lasers & imaging retina
Early structural anomalies observed by high-resolution imaging in two related cases of autosomal-dominant retinitis pigmentosa.
Article in Ophthalmic surgery, lasers & imaging retina. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 27 citations in OpenAlex.
- Article
- Intensity-based optoretinography reveals sub-clinical deficits in cone function in retinitis pigmentosa.Frontiers in ophthalmology · 2024Article
- Adaptive optics retinal imaging in patients with usher syndrome.Frontiers in ophthalmology · 2024Article
- Pearls and Pitfalls of Adaptive Optics Ophthalmoscopy in Inherited Retinal Diseases.Diagnostics (Basel, Switzerland) · 2023Review
- Twenty-five years of clinical applications using adaptive optics ophthalmoscopy [Invited].Biomedical optics express · 2023Review
- Long-term vitamin A supplementation in a preclinical mouse model for RhoD190N-associated retinitis pigmentosa.Human molecular genetics · 2022Article
- Article
- Cone photoreceptor dysfunction in retinitis pigmentosa revealed by optoretinography.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- Clinical and genetic findings in Italian patients with sector retinitis pigmentosa.Molecular vision · 2021Article
- Cellular imaging of inherited retinal diseases using adaptive optics.Eye (London, England) · 2019Review
- Mechanisms of neurodegeneration in a preclinical autosomal dominant retinitis pigmentosa knock-in model with a RhoCellular and molecular life sciences : CMLS · 2019Article
- Early detection of cone photoreceptor cell loss in retinitis pigmentosa using adaptive optics scanning laser ophthalmoscopy.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2019Article
- Clustered Regularly Interspaced Short Palindromic Repeats-Based Genome Surgery for the Treatment of Autosomal Dominant Retinitis Pigmentosa.Ophthalmology · 2018Article
- Adaptive optics imaging of inherited retinal diseases.The British journal of ophthalmology · 2018Review
- Cell type-specific changes in retinal ganglion cell function induced by rod death and cone reorganization in rats.Journal of neurophysiology · 2017Article
- A challenge to the striking genotypic heterogeneity of retinitis pigmentosa: a better understanding of the pathophysiology using the newest genetic strategies.Eye (London, England) · 2016Review
- The fundus photo has met its match: optical coherence tomography and adaptive optics ophthalmoscopy are here to stay.Ophthalmic & physiological optics : the journal of the British College of Ophthalmic Opticians (Optometrists) · 2016Review
- Assessing Photoreceptor Structure in Retinitis Pigmentosa and Usher Syndrome.Investigative ophthalmology & visual science · 2016Article
- Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.Nature genetics · 2015Article
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
Abstract
The authors report the use of adaptive-optics scanning laser ophthalmoscopy (AO-SLO) to investigate RHO, D190N autosomal-dominant retinitis pigmentosa in two siblings (11 and 16 years old, respectively). Each patient exhibited distinct hyperautofluorescence patterns in which the outer borders corresponded to inner segment ellipsoid band disruption. Areas within the hyperautofluorescence patterns exhibited normal photoreceptor outer segments and retinal pigment epithelium. However, AO-SLO imaging revealed noticeable spacing irregularities in the cone mosaic. AO-SLO allows researchers to characterize retinal structural abnormalities with precision so that early structural changes in retinitis pigmentosa can be identified and reconciled with genetic findings.
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Registered trials
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.