Long-Term Structural and Functional Assessment of Doyne Honeycomb Retinal Dystrophy following Nanosecond 2RT Laser Treatment: A Case Series
| Title: | Long-Term Structural and Functional Assessment of Doyne Honeycomb Retinal Dystrophy following Nanosecond 2RT Laser Treatment: A Case Series |
|---|---|
| Authors: | Andrea Cusumano, Benedetto Falsini, Michele D'Ambrosio, Fabian D'Apolito, Jacopo Sebastiani, Jung Hee Levialdi Ghiron, Emiliano Giardina, Raffaella Cascella |
| Source: | Case Reports in Ophthalmology, Vol 14, Iss 1, Pp 626-639 (2023) |
| Publisher Information: | Karger Publishers, 2023. |
| Publication Year: | 2023 |
| Collection: | LCC:Ophthalmology |
| Subject Terms: | case report, doyne macular dystrophy, visual function, 2rt laser treatment, efemp1, Ophthalmology, RE1-994 |
| More Details: | 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. |
| Document Type: | article |
| File Description: | electronic resource |
| Language: | English |
| ISSN: | 1663-2699 00053457 98817868 |
| Relation: | https://beta.karger.com/Article/FullText/534579; https://doaj.org/toc/1663-2699 |
| DOI: | 10.1159/000534579 |
| Access URL: | https://doaj.org/article/bcfe175132e64e98817868743e7b27e0 |
| Accession Number: | edsdoj.bcfe175132e64e98817868743e7b27e0 |
| Database: | Directory of Open Access Journals |
| ISSN: | 16632699 00053457 98817868 |
|---|---|
| DOI: | 10.1159/000534579 |
| Published in: | Case Reports in Ophthalmology |
| Language: | English |