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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 v
SUBMITTER: Cusumano A
PROVIDER: S-EPMC10666958 | biostudies-literature | 2023 Jan-Dec
REPOSITORIES: biostudies-literature