QOLDMAN-FAVR SİNDROMU (KLİNİK HAL)
Açar sözlər:
Goldman-Favre syndrome, syndrome of enhanced response of 8-cones, electroretinogram, spectral optical coherence tomographyXülasə
SUMMARY
The article presents a clinical case with Goldman-Favre syndrome. This syndrome, which is a very rare disease is caused by a mutation in the NR2E3 gene and is transmitted through an autosomal recession. One of the most important diagnostic methods for this disease is electroretinogram. According to the ERG study, Goldman-Favre syndrome has four pathognomic symptoms. In this regard, the use of this research method in combination with other diagnostic methods is considered appropriate.