QOLDMAN-FAVR SİNDROMU (KLİNİK HAL)

Авторы

  • Axundova L.Ə.
  • Məmmədova L.Ş.

Açar sözlər:

Goldman-Favre syndrome, syndrome of enhanced response of 8-cones, electroretinogram, spectral
optical coherence tomography

Xülasə

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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Dərc olunub

23.01.2020

Nömrə

Bölmə

KLİNİKİ MÜŞAHİDƏLƏR

Как цитировать

[1]
Axundova L.Ə. and Məmmədova L.Ş. 2020. QOLDMAN-FAVR SİNDROMU (KLİNİK HAL). Azərbaycan Oftalmologiya Jurnalı. 31 (Jan. 2020), 71–75.