ArticleAmerican journal of ophthalmology case reports2022
Multimodal imaging reveals retinoschisis masquerading as retinal detachment in patients with choroideremia.
Article in American journal of ophthalmology case reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed, 4 citations in OpenAlex.
- The Value of Electroretinography in Identifying Candidate Genes for Inherited Retinal Dystrophies: A Diagnostic Guide.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
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Authors and funding
7 authors at 3 institutions in 1 country.
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Abstract
Purpose: To report three cases of retinoschisis in patients with intermediate to advanced choroideremia. Observations: Three patients were referred for evaluation of retinal detachment in the context of an inherited retinal degenerative disease. In all three cases, patients carried variants in the Conclusions/Importance: This paper draws attention to the occurrence of retinoschisis in patients with choroideremia. OCT can be used to confirm the presence of retinoschisis rather than retinal detachment, as the clinical exam findings that distinguish the two conditions are not helpful in the setting of advanced chorioretinal atrophy. Although it remains unclear whether patients with choroideremia as a group are at increased risk of retinoschisis, it is possible that abnormal vesicular traffic in the RPE and photoreceptors could contribute to abnormalities in cell adhesion and the extracellular matrix. As gene therapy by subretinal injection of adeno-associated virus becomes the standard of care to slow down or arrest retinal degeneration in choroideremia, it will be critical to carefully screen these patients for retinoschisis prior to surgical intervention and to incorporate any such findings into surgical planning.
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