Twelve-year follow up of a case of autosomal recessive bestrophinopathy with transient resolution of retinal edema in one eye
PURPOSE: To report 12-year follow-up of a patient with ARB.
CASE REPORT: A 25-year-old man presented with blurred vision in his both eyes (OU). Best-corrected visual acuity (BCVA) was 20/63 Snellen equivalent in the right eye (OD) and 20/32 Snellen equivalent in the left eye. The intraocular pressures and anterior segment examination were unrevealing in OU. Posterior segment examination revealed multiple yellowish flecks and dots in the posterior pole in OU. Optical coherence tomography (OCT) showed subretinal fluid (SRF), intraretinal hyporeflective spaces, elongated and shaggy photoreceptors and outer retinal defects. Fundus autofluorescence demonstrated mottling hyperautofluorescence and hypoautofluorescence in the posterior pole in OU. Fluorescein angiography illustrated hyperfluorescence in the posterior pole and surrounding the arcades in OU. Multifocal electroretinography objectified mild to markedly abnormal responses in all ring areas in OU. Molecular genetic testing confirmed two heterozygous sequence variations in the BEST1 gene. At 4 years of follow-up, OCT revealed a complete resolution of SRF and a partial resolution of intraretinal hyporeflective spaces in the OD with corresponding improvement in the BCVA to 20/23 Snellen equivalent in the OD, even though outer retinal defects persisted. Our patient denied recent changes in his alimentary habits and medical history at that time. Posteriorly, SRF and intraretinal hyporeflective spaces reappeared in the OD.
CONCLUSION: To the best of our knowledge, this is the first case report of ARB with a transient resolution of retinal edema in one eye without medical treatment and dietary therapy.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2023 |
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| Erschienen: |
2023 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:33 |
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| Enthalten in: |
European journal of ophthalmology - 33(2023), 3 vom: 06. Mai, Seite NP88-NP92 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Remolí Sargues, Lidia [VerfasserIn] |
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| Links: |
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| Anmerkungen: |
Date Completed 01.05.2023 Date Revised 01.05.2023 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1177/11206721211073211 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM335246362 |
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| 100 | 1 | |a Remolí Sargues, Lidia |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Twelve-year follow up of a case of autosomal recessive bestrophinopathy with transient resolution of retinal edema in one eye |
| 264 | 1 | |c 2023 | |
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| 500 | |a Date Completed 01.05.2023 | ||
| 500 | |a Date Revised 01.05.2023 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a PURPOSE: To report 12-year follow-up of a patient with ARB | ||
| 520 | |a CASE REPORT: A 25-year-old man presented with blurred vision in his both eyes (OU). Best-corrected visual acuity (BCVA) was 20/63 Snellen equivalent in the right eye (OD) and 20/32 Snellen equivalent in the left eye. The intraocular pressures and anterior segment examination were unrevealing in OU. Posterior segment examination revealed multiple yellowish flecks and dots in the posterior pole in OU. Optical coherence tomography (OCT) showed subretinal fluid (SRF), intraretinal hyporeflective spaces, elongated and shaggy photoreceptors and outer retinal defects. Fundus autofluorescence demonstrated mottling hyperautofluorescence and hypoautofluorescence in the posterior pole in OU. Fluorescein angiography illustrated hyperfluorescence in the posterior pole and surrounding the arcades in OU. Multifocal electroretinography objectified mild to markedly abnormal responses in all ring areas in OU. Molecular genetic testing confirmed two heterozygous sequence variations in the BEST1 gene. At 4 years of follow-up, OCT revealed a complete resolution of SRF and a partial resolution of intraretinal hyporeflective spaces in the OD with corresponding improvement in the BCVA to 20/23 Snellen equivalent in the OD, even though outer retinal defects persisted. Our patient denied recent changes in his alimentary habits and medical history at that time. Posteriorly, SRF and intraretinal hyporeflective spaces reappeared in the OD | ||
| 520 | |a CONCLUSION: To the best of our knowledge, this is the first case report of ARB with a transient resolution of retinal edema in one eye without medical treatment and dietary therapy | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a anatomy/biochemistry/physiology | |
| 650 | 4 | |a macular and RPE dystrophies | |
| 650 | 4 | |a practice management | |
| 650 | 4 | |a retinal pathology/research | |
| 650 | 4 | |a techniques of retinal examination | |
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| 700 | 1 | |a Rodríguez López, Raquel |e verfasserin |4 aut | |
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| 700 | 1 | |a Montero Hernández, Javier |e verfasserin |4 aut | |
| 700 | 1 | |a Castro Navarro, Verónica |e verfasserin |4 aut | |
| 700 | 1 | |a Cervera Taulet, Enrique |e verfasserin |4 aut | |
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