Facioscapulohumeral muscular dystrophy (FSHD) is a slowly progressive muscular dystrophy with a wide range of manifestations including retinal vasculopathy. This study aimed to analyse retinal vascular involvement in FSHD patients using fundus photographs and optical coherence tomography-angiography (OCT-A) scans, evaluated through artificial intelligence (AI). Thirty-three patients with a diagnosis of FSHD (mean age 50.4 ± 17.4 years) were retrospectively evaluated and neurological and ophthalmological data were collected. Increased tortuosity of the retinal arteries was qualitatively observed in 77% of the included eyes. The tortuosity index (TI), vessel density (VD), and foveal avascular zone (FAZ) area were calculated by processing OCT-A images through AI. The TI of the superficial capillary plexus (SCP) was increased ( < 0.001), while the TI of the deep capillary plexus (DCP) was decreased in FSHD patients in comparison to controls ( = 0.05). VD scores for both the SCP and the DCP results increased in FSHD patients ( = 0.0001 and = 0.0004, respectively). With increasing age, VD and the total number of vascular branches showed a decrease ( = 0.008 and < 0.001, respectively) in the SCP. A moderate correlation between VD and EcoRI fragment length was identified as well (r = 0.35, = 0.048). For the DCP, a decreased FAZ area was found in FSHD patients in comparison to controls (t (53) = -6.89, = 0.01). A better understanding of retinal vasculopathy through OCT-A can support some hypotheses on the disease pathogenesis and provide quantitative parameters potentially useful as disease biomarkers. In addition, our study validated the application of a complex toolchain of AI using both ImageJ and Matlab to OCT-A angiograms.
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| http://dx.doi.org/10.3390/diagnostics13050982 | DOI Listing |
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Article Synopsis
- FSHD is a genetic muscle disorder that can start in childhood, affecting about 20% of patients early on. Understanding its progression and outcomes is important for care and research.
- A study followed 20 childhood-onset FSHD patients over 5 years, assessing muscle function and disease severity with various tests. Most participants did not notice changes in their condition, despite measurable progression.
- Results showed variable disease progression, with improvements in quality of life and decreased fatigue. The study emphasizes the need for more sensitive outcome measures and larger international studies in future pediatric research.
Objective: Reliable, circulating biomarkers for Duchenne, Becker and facioscapulohumeral muscular dystrophies (DBMD and FSHD) remain unvalidated. Here, we investigated the plasma extracellular vesicle (EV) proteome to identify disease-specific biomarkers that could accelerate therapy approvals.
Methods: We extracted EVs from the plasma of DBMD and FSHD patients and healthy controls using size-exclusion chromatography, conducted mass spectrometry on the extracted EV proteins, and performed comparative analysis to identify disease-specific biomarkers.
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