TürkiyeDiagnosis and screening
Two new gene changes found in three families with achromatopsia in Türkiye
A study published in a journal and reviewed by independent scientists. Even so, a single study is not conclusive; it needs to be replicated.
Eye and genetics doctors from Aydın and other provinces studied five patients with achromatopsia. The patients came from three separate families. Detailed eye examinations and broad gene testing were performed. Two previously unreported changes were found in the CNGA3 and CNGB3 genes. The authors emphasize that early gene testing makes diagnosis and family counseling easier.
What does it mean for patients and families?
In achromatopsia, gene testing helps clarify the type of the disease. This is also important for taking part in gene therapy studies that may open in the future. This is a small group of patients.
Source
Scientific paper: Expanding the genetic spectrum of achromatopsia: novel CNGA3 and CNGB3 variants. International Ophthalmology, 2025. DOI: 10.1007/s10792-025-03650-y · PubMed 40699246
The source page was opened and read on October 7, 2026. Summary prepared by the Doktorclub editorial team and translated from Turkish; it has not yet been reviewed by a physician (a scientific board is being set up).
This page is translated from the Turkish original.
Related disease: Achromatopsia (complete color blindness)
This page reports a development; it is not a treatment recommendation. Your doctor decides whether a treatment is right for you.