Reliability of clinical impressions and optimal genetic diagnostic strategies of heritable connective tissue disorders with ocular involvement in a large Chinese cohort.

Abstract excerpt

PURPOSE: This study aimed to elucidate the reliability of clinical impressions based on ocular manifestations in patients suspected of heritable connective tissue disorders (HCTDs) compared to the final genetic diagnosis. Furthermore, it sought to determine the optimal diagnostic strategy for patients with HCTDs through pathogenicity analysis. METHODS: Clinical characteristics of 58 patients suspected of HCTDs...

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• China
• Cohort Studies
• Connective Tissue Diseases
• East Asian People
• Eye Diseases