Long-Term Structural and Functional Assessment of Doyne Honeycomb Retinal Dystrophy following Nanosecond 2RT Laser Treatment: A Case Series

Andrea Cusumano; Benedetto Falsini; Michele D'Ambrosio; Fabian D'Apolito; Jacopo Sebastiani; Jung Hee Levialdi Ghiron; Emiliano Giardina; Raffaella Cascella

doi:10.1159/000534579

Long-Term Structural and Functional Assessment of Doyne Honeycomb Retinal Dystrophy following Nanosecond 2RT Laser Treatment: A Case Series

Case Rep Ophthalmol. 2023 Nov 23;14(1):626-639. doi: 10.1159/000534579. eCollection 2023 Jan-Dec.

Authors

Andrea Cusumano^{1

2}, Benedetto Falsini^{2

3}, Michele D'Ambrosio^{1

2}, Fabian D'Apolito², Jacopo Sebastiani², Jung Hee Levialdi Ghiron², Emiliano Giardina^{2

4

5}, Raffaella Cascella^{5

6}

Affiliations

¹ Department of Ophthalmology, Tor Vergata University, Rome, Italy.
² Macula and Genoma Foundation, Rome, Italy.
³ Department of Ophthalmology, Fondazione Policlinico A. Gemelli, IRCCS/Catholic University, Rome, Italy.
⁴ Department of Biomedicine and Prevention, Tor Vergata University, Rome, Italy.
⁵ Genomic Medicine Laboratory-UILDM, Santa Lucia Foundation IRCCS, Rome, Italy.
⁶ Department of Biomedical Sciences, Catholic University Our Lady of Good Counsel, Tirana, Albania.

Abstract

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.

Keywords: 2RT laser treatment; Case report; Doyne macular dystrophy; EFEMP1; Visual function.

Publication types

Case Reports

Grants and funding

The study was supported by a grant of the Macula and Genoma Foundation.