Observations for Sjögren’s Pigment Epithelial Reticular Dystrophy in a 16-Year-Old Boy—An Extremely Rare Retinal Case Report
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/. Abno...
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MDPI AG
2023-02-01
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| Series: | Journal of Clinical Medicine |
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| Online Access: | https://www.mdpi.com/2077-0383/12/4/1406 |
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| author | Monika Modrzejewska Wojciech Lubiński Katarzyna Czyżewska Wiktoria Bosy-Gąsior |
| author_facet | Monika Modrzejewska Wojciech Lubiński Katarzyna Czyżewska Wiktoria Bosy-Gąsior |
| author_sort | Monika Modrzejewska |
| collection | DOAJ |
| description | 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). |
| first_indexed | 2024-03-11T08:38:28Z |
| format | Article |
| id | doaj.art-2bb31381b4864217a78ec1319f93ae39 |
| institution | Directory Open Access Journal |
| issn | 2077-0383 |
| language | English |
| last_indexed | 2024-03-11T08:38:28Z |
| publishDate | 2023-02-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Clinical Medicine |
| spelling | doaj.art-2bb31381b4864217a78ec1319f93ae392023-11-16T21:19:09ZengMDPI AGJournal of Clinical Medicine2077-03832023-02-01124140610.3390/jcm12041406Observations for Sjögren’s Pigment Epithelial Reticular Dystrophy in a 16-Year-Old Boy—An Extremely Rare Retinal Case ReportMonika Modrzejewska0Wojciech Lubiński1Katarzyna Czyżewska2Wiktoria Bosy-Gąsior3II-nd Department of Ophthalmology, Pomeranian Medical University in Szczecin, Al. Powstancow Wielkopolskich 72, 70-111 Szczecin, PolandII-nd Department of Ophthalmology, Pomeranian Medical University in Szczecin, Al. Powstancow Wielkopolskich 72, 70-111 Szczecin, PolandDepartament of Neonatal Intensive Care Unit, Pomeranian Medical University in Szczecin, Al. Powstancow Wielkopolskich 72, 70-111 Szczecin, PolandScientific Association of Students II-nd Department of Ophthalmology, Pomeranian Medical University in Szczecin, Al. Powstancow Wielkopolskich 72, 70-111 Szczecin, PolandThe 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).https://www.mdpi.com/2077-0383/12/4/1406Sjögren’s reticular dystrophydegenerative lesions in the retinal pigment epitheliumdiagnosticselectrophysiological changesophthalmic symptoms |
| spellingShingle | Monika Modrzejewska Wojciech Lubiński Katarzyna Czyżewska Wiktoria Bosy-Gąsior Observations for Sjögren’s Pigment Epithelial Reticular Dystrophy in a 16-Year-Old Boy—An Extremely Rare Retinal Case Report Journal of Clinical Medicine Sjögren’s reticular dystrophy degenerative lesions in the retinal pigment epithelium diagnostics electrophysiological changes ophthalmic symptoms |
| title | Observations for Sjögren’s Pigment Epithelial Reticular Dystrophy in a 16-Year-Old Boy—An Extremely Rare Retinal Case Report |
| title_full | Observations for Sjögren’s Pigment Epithelial Reticular Dystrophy in a 16-Year-Old Boy—An Extremely Rare Retinal Case Report |
| title_fullStr | Observations for Sjögren’s Pigment Epithelial Reticular Dystrophy in a 16-Year-Old Boy—An Extremely Rare Retinal Case Report |
| title_full_unstemmed | Observations for Sjögren’s Pigment Epithelial Reticular Dystrophy in a 16-Year-Old Boy—An Extremely Rare Retinal Case Report |
| title_short | Observations for Sjögren’s Pigment Epithelial Reticular Dystrophy in a 16-Year-Old Boy—An Extremely Rare Retinal Case Report |
| title_sort | observations for sjogren s pigment epithelial reticular dystrophy in a 16 year old boy an extremely rare retinal case report |
| topic | Sjögren’s reticular dystrophy degenerative lesions in the retinal pigment epithelium diagnostics electrophysiological changes ophthalmic symptoms |
| url | https://www.mdpi.com/2077-0383/12/4/1406 |
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