QOLDMAN-FAVR SİNDROMU (KLİNİK HAL)
Keywords:
Goldman-Favre syndrome, syndrome of enhanced response of 8-cones, electroretinogram, spectral optical coherence tomographyAbstract
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.
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Published
2020-01-23
Issue
Section
CLINICAL CASES
How to Cite
[1]
Axundova L.Ə. and Məmmədova L.Ş. 2020. QOLDMAN-FAVR SİNDROMU (KLİNİK HAL). The Azerbaijan Journal of Ophthalmology. 31 (Jan. 2020), 71–75.
