Abstract
BackgroundThe aim of this study is to analyze and compare the progression of photoreceptor atrophy among siblings affected by retinitis pigmentosa by means of spectral SD-OCT.MethodsFifty three eyes of 27 patients belonging to 12 family clusters were analyzed. To assess the annual progression rate of photoreceptor atrophy, the ellipsoid zone (EZ) line was measured in OCT sections through the fovea. We used multivariate generalized mixed effects to model the rate of progression and its relation to the initial ellipsoid zone line width.ResultsDuring our 4.84 years (± 1.44) mean follow up time (range 3–7) 53 eyes were examined. The ellipsoid zone line width declined with a yearly average rate of 76.4 μm (4.16% / year) (p-value < 0.0001). Progression rates were poorly correlated within family clusters (p-value = 0.23) and showed statistical difference between affected siblings (p-value = 0.007). There was no correlation between inter-familiar progression rate and mode of inheritance (p-value = 0.98) as well as between age and ellipsoid zone line width among siblings (p-value = 0.91).ConclusionRP could be extremely heterogeneous even among siblings: an accurate and sensitive method to follow the progression of the disease is fundamental for future development of clinical trials and therapy strategies.
Highlights
The aim of this study is to analyze and compare the progression of photoreceptor atrophy among siblings affected by retinitis pigmentosa by means of spectral Spectral domain optical coherence tomography (SD-OCT)
Neuroprotection, stem cells, gene therapy, optogenetics, electrical stimulation and retinal prosthesis represent possible potential future approaches to slow down the progression of the disease or to restore visual function in patients affected by retinal dystrophies [13–28]
Our study shows that in our cohort of patients the rate of disease progression among siblings affected by Retinitis pigmentosa (RP), evaluated by means of SD-OCT, is not homogenous
Summary
The aim of this study is to analyze and compare the progression of photoreceptor atrophy among siblings affected by retinitis pigmentosa by means of spectral SD-OCT. The peculiarity of RP is its substantial heterogeneity: more than 60 genes are involved, with many possible disease-causing mutations on the same gene, and different clinical outcomes may be linked to the same mutation [5–11] Despite this heterogeneity, RP patients have some common clinical features: progressive loss of photoreceptors, typically involving the rod system. Neuroprotection, stem cells, gene therapy, optogenetics, electrical stimulation and retinal prosthesis represent possible potential future approaches to slow down the progression of the disease or to restore visual function in patients affected by retinal dystrophies [13–28]. In this light, having deeper knowledge of the mechanisms of disease and more sensitive methods to study its progression is becoming increasingly important
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
