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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.
Purpose:
To delineate the intricate interplay between inflammation, retinal remodeling, and genotype in CRB1-associated inherited retinal diseases (CRB1-IRDs).
Design:
Retrospective, multicenter observational case series.
Methods:
We evaluated 66 CRB1-retinopathy patients from 61 unrelated families recruited from 4 tertiary hospitals in China between June 2016 and July 2024. Comprehensive medical records, ophthalmic examination and multimodal fundus imaging were obtained and reviewed. The main outcome measures included: inflammatory-like fundus characteristics, quantitative assessments of retinal thickness, and genotype-phenotype correlations regarding both inflammatory-like features and the severity of outer retinal disruption.
Results:
Among 66 patients (59.1% male, aged 3-57 years), clinical diagnoses included retinitis pigmentosa (RP, 60.6%), Leber congenital amaurosis (LCA, 33.3%), and cone-rod dystrophy (6.1%). Several inflammatory-like fundus features were identified, including preserved para-arteriolar retinal pigment epithelium (PPRPE, 77.5%), yellow-white lesions (68.1%), vascular sheathing (48.9%), nummular pigmentation (26.6%) and Coats-like vasculopathy (3.2%). In CRB1-IRD retinas with residual outer nuclear layer (ONL), inner nuclear layer thickening was observed, whereas those with complete ONL loss exhibited progressive atrophy. Patients with biallelic loss-of-function variants exhibited significantly higher prevalence of PPRPE (88% vs 64.7%, P = .042), yellow-white lesions (80% vs 52.9%, P = .038), and greater outer retinal disruption compared to those with biallelic non-null mutations (outer plexiform layer continuity: 18.2% vs 50%, P = .014; ellipsoid zone retention: 13.6% vs 40%, P = .031).
Conclusions:
This study identifies retinal inflammation-like changes as core features of CRB1-IRD, might associated with retinal remodeling and genotype. These findings provide new insights into CRB1-IRD and establish references for diagnosis and future clinical trial design.
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