ArticleJournal of clinical medicine2023
Observations for Sjögren's Pigment Epithelial Reticular Dystrophy in a 16-Year-Old Boy-An Extremely Rare Retinal Case Report.
Article in Journal of clinical medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed, 1 citations in OpenAlex.
- Sjögren: unique surname, two men, four syndromes and one disease.Arquivos de neuro-psiquiatria · 2024Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The purpose of this publication is to present an extremely rare case of Sjögren's pigment epithelial reticular dystrophy. So far, 10 such publications have been found in world literature. A 16-year-old boy was diagnosed due to a slight loss of visual acuity, confirmed in static perimetry/24-2/. Abnormal dense clusters of retinal pigment epithelium (RPE) cells forming a reticular network pattern (resembling a fishing net) with marked knots were detected by fundoscopy in the macular area and the mid-periphery of the retina. No abnormalities were found in the anterior segment, intraocular pressure, kinetic perimetry, Ishihara or Farnsworth D-15 tests or OCT. Fluorescein angiography confirmed blocked fluorescence from the choroidal vessels caused by the pigment in RPE. An autofluorescence test showed hypofluorescent foci corresponding to symmetrical and bilateral retinal hyperpigmentation with an RPE reticular pattern. Multifocal ERG (mfERG) revealed slight cone photoreceptor and bipolar bioelectrical dysfunction. Electrooculography (EOG) showed significant asymmetry (Arden Ratio 1.8), suggesting bioelectrical dysfunction of RPE/photoreceptors. Flash ERG (ERG) revealed only slight increase in implicit time of the a and b waves of the rod and cone responses and exclude cone-rod dystrophies. This article highlights the importance of the results of ophthalmoscopy, fluorescein angiography, autofluorescence, mfERG, fERG, EOG and genetic tests for Sjögren's reticular dystrophy with a pathogenic variant in the region of the C2 gene-c.841_849+19del (dbSNP rs9332736).
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Registered trials
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