Long-Term Structural and Functional Assessment of Doyne Honeycomb Retinal Dystrophy following Nanosecond 2RT Laser Treatment: A Case Series
Introduction: Doyne honeycomb retinal dystrophy (DHRD), or autosomal dominant radial drusen, is a genetic disease caused by pathogenic variants of the epidermal growth factor (EGF)-containing fibulin-like extracellular matrix protein 1 EFEMP1 gene and is characterized by the formation of subretinal...
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| Format: | Article |
| Language: | English |
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Karger Publishers
2023-11-01
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| Series: | Case Reports in Ophthalmology |
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| Online Access: | https://beta.karger.com/Article/FullText/534579 |
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| author | Andrea Cusumano Benedetto Falsini Michele D'Ambrosio Fabian D'Apolito Jacopo Sebastiani Jung Hee Levialdi Ghiron Emiliano Giardina Raffaella Cascella |
| author_facet | Andrea Cusumano Benedetto Falsini Michele D'Ambrosio Fabian D'Apolito Jacopo Sebastiani Jung Hee Levialdi Ghiron Emiliano Giardina Raffaella Cascella |
| author_sort | Andrea Cusumano |
| collection | DOAJ |
| description | Introduction: Doyne honeycomb retinal dystrophy (DHRD), or autosomal dominant radial drusen, is a genetic disease caused by pathogenic variants of the epidermal growth factor (EGF)-containing fibulin-like extracellular matrix protein 1 EFEMP1 gene and is characterized by the formation of subretinal drusenoid deposits. In a previous study, we reported the short-term beneficial effects of nanosecond laser treatment (2RT) on retinal function in DHRD. The aim of the present report was to describe the findings of a long-term follow-up of retinal structure/function in a small case series of patients with DHRD who underwent 2RT treatment. Case Presentation: Three DHRD patients (case 1, male and cases 2 and 3, two sister females, age range 41–46) with EFEMP1 pathogenic variant (c.1033C>T; p.R345W) and drusenoid deposits at the posterior pole were examined at baseline and after 2RT treatment, at regular intervals (every 2–4 months) up to 30 months. All 3 patients underwent one or two treatment sessions in one or both eyes during the follow-up period. Case 3 was treated with only the left eye (LE). Each patient underwent a full ophthalmologic examination, spectral domain optical coherence tomography (OCT), central perimetry with frequency doubling technology, and mesopic and photopic Ganzfeld electroretinograms. Compared to baseline findings, during follow-up, visual acuity improved in both eyes in case 1 and LE in case 2, while it decreased in the right eye in case 2 and LE in case 3; perimetric sensitivity was stable in case 1 and improved in both eyes in cases 2 and 3; and electroretinogram amplitude improved in cases 1 and 2 and was stable in case 3 (both eyes). OCT central macular thickness and retinal structure were stable in all cases. None of the patients had treatment-related side effects. Conclusion: This is the first report showing that in a long-term follow-up, 2RT treatment in DHRD may improve or stabilize some retinal function parameters without significant structural changes. |
| first_indexed | 2024-03-08T21:21:36Z |
| format | Article |
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| institution | Directory Open Access Journal |
| issn | 1663-2699 |
| language | English |
| last_indexed | 2024-03-08T21:21:36Z |
| publishDate | 2023-11-01 |
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| record_format | Article |
| series | Case Reports in Ophthalmology |
| spelling | doaj.art-bcfe175132e64e98817868743e7b27e02023-12-21T10:09:26ZengKarger PublishersCase Reports in Ophthalmology1663-26992023-11-0114162663910.1159/000534579534579Long-Term Structural and Functional Assessment of Doyne Honeycomb Retinal Dystrophy following Nanosecond 2RT Laser Treatment: A Case SeriesAndrea Cusumano0Benedetto Falsini1Michele D'Ambrosio2Fabian D'Apolito3Jacopo Sebastiani4Jung Hee Levialdi Ghiron5Emiliano Giardina6Raffaella Cascella7Department of Ophthalmology, Tor Vergata University, Rome, ItalyMacula and Genoma Foundation, Rome, ItalyDepartment of Ophthalmology, Tor Vergata University, Rome, ItalyMacula and Genoma Foundation, Rome, ItalyMacula and Genoma Foundation, Rome, ItalyMacula and Genoma Foundation, Rome, ItalyMacula and Genoma Foundation, Rome, ItalyGenomic Medicine Laboratory-UILDM, Santa Lucia Foundation IRCCS, Rome, ItalyIntroduction: Doyne honeycomb retinal dystrophy (DHRD), or autosomal dominant radial drusen, is a genetic disease caused by pathogenic variants of the epidermal growth factor (EGF)-containing fibulin-like extracellular matrix protein 1 EFEMP1 gene and is characterized by the formation of subretinal drusenoid deposits. In a previous study, we reported the short-term beneficial effects of nanosecond laser treatment (2RT) on retinal function in DHRD. The aim of the present report was to describe the findings of a long-term follow-up of retinal structure/function in a small case series of patients with DHRD who underwent 2RT treatment. Case Presentation: Three DHRD patients (case 1, male and cases 2 and 3, two sister females, age range 41–46) with EFEMP1 pathogenic variant (c.1033C>T; p.R345W) and drusenoid deposits at the posterior pole were examined at baseline and after 2RT treatment, at regular intervals (every 2–4 months) up to 30 months. All 3 patients underwent one or two treatment sessions in one or both eyes during the follow-up period. Case 3 was treated with only the left eye (LE). Each patient underwent a full ophthalmologic examination, spectral domain optical coherence tomography (OCT), central perimetry with frequency doubling technology, and mesopic and photopic Ganzfeld electroretinograms. Compared to baseline findings, during follow-up, visual acuity improved in both eyes in case 1 and LE in case 2, while it decreased in the right eye in case 2 and LE in case 3; perimetric sensitivity was stable in case 1 and improved in both eyes in cases 2 and 3; and electroretinogram amplitude improved in cases 1 and 2 and was stable in case 3 (both eyes). OCT central macular thickness and retinal structure were stable in all cases. None of the patients had treatment-related side effects. Conclusion: This is the first report showing that in a long-term follow-up, 2RT treatment in DHRD may improve or stabilize some retinal function parameters without significant structural changes.https://beta.karger.com/Article/FullText/534579case reportdoyne macular dystrophyvisual function2rt laser treatmentefemp1 |
| spellingShingle | Andrea Cusumano Benedetto Falsini Michele D'Ambrosio Fabian D'Apolito Jacopo Sebastiani Jung Hee Levialdi Ghiron Emiliano Giardina Raffaella Cascella Long-Term Structural and Functional Assessment of Doyne Honeycomb Retinal Dystrophy following Nanosecond 2RT Laser Treatment: A Case Series Case Reports in Ophthalmology case report doyne macular dystrophy visual function 2rt laser treatment efemp1 |
| title | Long-Term Structural and Functional Assessment of Doyne Honeycomb Retinal Dystrophy following Nanosecond 2RT Laser Treatment: A Case Series |
| title_full | Long-Term Structural and Functional Assessment of Doyne Honeycomb Retinal Dystrophy following Nanosecond 2RT Laser Treatment: A Case Series |
| title_fullStr | Long-Term Structural and Functional Assessment of Doyne Honeycomb Retinal Dystrophy following Nanosecond 2RT Laser Treatment: A Case Series |
| title_full_unstemmed | Long-Term Structural and Functional Assessment of Doyne Honeycomb Retinal Dystrophy following Nanosecond 2RT Laser Treatment: A Case Series |
| title_short | Long-Term Structural and Functional Assessment of Doyne Honeycomb Retinal Dystrophy following Nanosecond 2RT Laser Treatment: A Case Series |
| title_sort | long term structural and functional assessment of doyne honeycomb retinal dystrophy following nanosecond 2rt laser treatment a case series |
| topic | case report doyne macular dystrophy visual function 2rt laser treatment efemp1 |
| url | https://beta.karger.com/Article/FullText/534579 |
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