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Unveiling Inflammation-Like Retinal Remodeling in CRB1-Associated Inherited Retinal Dystrophies: Insights From a
Yu Hong1, Jianqing Li1, Zhixuan Chen1
1From the Department of Ophthalmology (Y.H., J.L., Z.C., T.Z., M.C., C.H., X.L., J.S., J.C., X.S.), Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Shanghai Key Laboratory of Ocular Fundus Diseases (Y.H., J.L., Z.C., T.Z., M.C., C.H., X.L., J.S., J.C., X.S.), Shanghai, China; National Clinical Research Center for Eye Diseases (Y.H., J.L., Z.C., T.Z., M.C., C.H., X.L., J.S., J.C., X.S.), Shanghai, China.
Inflammation-like changes are key in CRB1-inherited retinal diseases, linked to retinal remodeling and specific gene mutations. Understanding these features aids CRB1-IRD diagnosis and treatment strategies.
Area of Science:
- Ophthalmology
- Genetics
- Cell Biology
Background:
- CRB1-associated inherited retinal diseases (CRB1-IRDs) are a group of genetic disorders affecting vision.
- The relationship between inflammation, retinal structural changes, and genetic mutations in CRB1-IRDs requires further elucidation.
Purpose of the Study:
- To investigate the interplay between inflammation, retinal remodeling, and genotype in CRB1-IRDs.
- To identify key fundus features associated with CRB1-IRDs.
Main Methods:
- A retrospective, multicenter observational case series.
- Evaluation of 66 patients with CRB1-retinopathy from 61 families.
- Analysis of medical records, ophthalmic examinations, and multimodal fundus imaging, focusing on inflammatory-like features, retinal thickness, and genotype-phenotype correlations.
Main Results:
- Common diagnoses included retinitis pigmentosa (RP), Leber congenital amaurosis (LCA), and cone-rod dystrophy.
- Identified inflammatory-like features: preserved para-arteriolar retinal pigment epithelium (PPRPE), yellow-white lesions, vascular sheathing, nummular pigmentation, and Coats-like vasculopathy.
- Patients with loss-of-function CRB1 variants showed a higher prevalence of PPRPE and yellow-white lesions, along with more severe outer retinal disruption compared to those with non-null mutations.
Conclusions:
- Retinal inflammation-like changes are core features of CRB1-IRDs.
- These findings suggest an association between inflammation, retinal remodeling, and genotype in CRB1-IRDs.
- The study provides valuable insights for diagnosing CRB1-IRDs and designing future clinical trials.
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