ArticleTurkish journal of medical sciences2025
Contribution of genetic test results to patient management in ophthalmology: results from a Turkish Stargardt disease cohort.
Article in Turkish journal of medical sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background/aim: The aim of the study was to analyze the genotype and phenotype characteristics of Turkish patients with a clinical diagnosis of Stargardt disease and to evaluate how collaboration between the departments of medical genetics and ophthalmology contributes to patient management. Materials and methods: The clinical findings, genetic testing workflow in the medical genetics department, and the genetic testing results of patients clinically diagnosed with Stargardt disease in the ophthalmology department were retrospectively analyzed. Results: The study included 50 patients from 46 families. The genetic test reports confirmed the clinical diagnosis of Stargardt disease type 1 (STGD1) in 27 patients (54%), led to revision of the clinical diagnosis in five patients (10%), and were inconclusive in 18 patients (36%). A total of 26 pathogenic Conclusion: This study serves as a representative example of how genetic testing and a multidisciplinary approach can contribute to management of inherited eye diseases. It also reports three novel
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