Abstract: FR-PO0116
Characteristics and Diagnostic Value of Temporal Retinal Thinning in Patients with Alport Syndrome
Session Information
- Hereditary Glomerular and Tubulointerstitial Kidney Diseases
October 23, 2026 | Location: Exhibit Hall A, Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Genetic Diseases of the Kidneys
- 1202 Genetic Diseases of the Kidneys: Non-Cystic (Complex and Non-Cystic Monogenic)
Authors
- Dai, Xuantong, Shanghai Jiaotong University School of Medicine Xinhua Hospital, Shanghai, China
- Zhao, Ziyi, Shanghai Jiaotong University School of Medicine Xinhua Hospital, Shanghai, China
- Jiang, Gengru, Shanghai Jiaotong University School of Medicine Xinhua Hospital, Shanghai, China
- Lin, Fujun, Shanghai Jiaotong University School of Medicine Xinhua Hospital, Shanghai, China
Background
Alport syndrome (AS) is a hereditary basement membrane disorder caused by collagen-IV gene mutations, mainly affecting the kidneys, inner ear, and eyes. Early identification of severe phenotypes is crucial for timely clinical intervention and renal protection. This study aimed to explore the characteristics of temporal retinal thinning and the diagnostic value of the temporal thinning index (TTI) in predicting AS severity.
Methods
A total of 154 genetically confirmed AS patients were retrospectively enrolled and stratified into two phenotypic groups: 68 cases in the severe group (male XLAS, ARAS, and digenic variants) and 86 cases in the mild group (female XLAS and ADAS). All patients underwent spectral-domain optical coherence tomography (SD-OCT) to measure bilateral TTI. Clinical data including age, estimated glomerular filtration rate (eGFR), albumin-creatinine ratio (ACR), and serum creatinine were collected. All statistical analyses were performed using SPSS 26.0 software.
Results
Significant inter-group differences were observed in age, mean TTI, and ACR (all P＜0.001): the severe group was younger (19.74±10.80 vs 34.79±15.87 years), with higher mean TTI (10.92±2.94 vs 8.29±1.91) and ACR (1263.89±1565.92 vs 416.62±851.55 mg/g). No significant differences were found in eGFR and serum creatinine (P＞0.05). Mean TTI was positively correlated with serum creatinine and ACR, and negatively correlated with eGFR (all P＜0.05). ROC curve analysis showed mean TTI had moderate-to-good predictive efficiency (AUC=0.773), with an optimal cutoff of 9.31, sensitivity of 72.2%, and specificity of 73.1%.
Conclusion
Temporal retinal thinning presents distinct characteristics in severe AS patients. Mean TTI is closely associated with renal function and can serve as a non-invasive auxiliary biomarker for predicting AS severity when genotyping results are unavailable.
Comparison of Clinical Characteristics and TTI Between Severe and Mild Phenotype Groups of Alport Syndrome
| Variable | Severe group (n=68) | Mild group (n=86) | P |
| Age, years | 19.74±10.80 | 34.79±15.87 | ＜0.001 |
| Mean TTI | 10.92±2.94 | 8.29±1.91 | ＜0.001 |
| eGFR, mL/min/1.73m2 | 106.89±49.40 | 94.97±47.69 | 0.3798 |
| ACR, mg/g | 1263.89±1565.92 | 416.62±851.55 | ＜0.001 |
| Serum creatinine, μmol/L | 107.79±171.09 | 90.62±88.24 | 0.7420 |
Funding
- Clinical Revenue Support