Contribution of genetic test results to patient management in ophthalmology: results from a Turkish Stargardt disease cohort
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 <i>ABCA4</i> variants in Turkish patients with Stargardt disease and describes genotype-phenotype correlations. However, conducting multicenter studies with larger sample sizes from Türkiye will be essential to broaden the spectrum of <i>ABCA4</i> variants and enhance our understanding of genotype-phenotype relationships.
Authors
- Fulya Yaylacıoğlu Tuncay (ORCID: https://orcid.org/0000-0002-2088-3416)
- Murat Yüksel (ORCID: https://orcid.org/0000-0002-3603-5024)
- Şengül Özdek (ORCID: https://orcid.org/0000-0002-7494-4106)
- Gülsüm Kayhan (ORCID: https://orcid.org/0000-0002-4286-243X)
- Hüseyin Baran Özdemir (ORCID: https://orcid.org/0000-0002-5585-253X)
- Mehmet Ali Ergün (ORCID: https://orcid.org/0000-0001-9696-0433)
- Gökhan Gürelik (ORCID: https://orcid.org/0000-0001-9478-494X)
- Burak Acar (ORCID: https://orcid.org/0000-0003-4818-9378)
Institutions
- Gülhane Askerî Tıp Akademisi (TR)
- Sağlık Bilimleri Üniversitesi (TR)
- University of Health Sciences Antigua (AG)
- Gazi University (TR)
Publication Details
- Journal
- TURKISH JOURNAL OF MEDICAL SCIENCES
- Published
- 2025-10-14
- DOI
- https://doi.org/10.55730/1300-0144.6077
- Primary Topic
- Connexins and lens biology
- Type
- article
- Field-Weighted Citation Impact
- 0.00