American journal of ophthalmology case reports · 2021
Goldmann-Favre/Enhanced S Cone Syndrome, 30 years mysdiagnosed as gyrate atrophy.
Клинический случайСтатьяНазвание и аннотация: Перевод пока не подготовлен
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
García Caride Sara, López Guajardo Lorenzo, Donate López Juan
Аннотация
PURPOSE: Case report of a Goldmann-Favre/Enhanced S Cone syndrome (GFS/ESCS) misdiagnosed for 30 years.
OBSERVATIONS: Clinical case, the patient had been experiencing with poor nocturnal visual acuity since childhood. The fundus examination showed extensive areas of peripheral chorioretinal atrophy with posterior demarcation borders, and a clinical diagnosis of gyrate atrophy was established, although normal levels of ornithine should have made this diagnosis doubtful. 30 years later it was reassessed with electrophysiologic and genetic studies and diagnosed as Goldman-Favre/Enhanced S Cone Syndrome (GFS/ESCS).
CONCLUSIONS AND IMPORTANCE: High phenotypic variability of GFS/ESCS makes it difficult to distinguish clinically from diseases such as retinitis pigmentosa, congenital retinoschisis, and gyrate atrophy. Electrophysiology and genetic studies aid in diagnosis. GFS/ESCS is a clinical diagnosis and should be suspected before molecular test. We present a novel mutation for this disease.
OBSERVATIONS: Clinical case, the patient had been experiencing with poor nocturnal visual acuity since childhood. The fundus examination showed extensive areas of peripheral chorioretinal atrophy with posterior demarcation borders, and a clinical diagnosis of gyrate atrophy was established, although normal levels of ornithine should have made this diagnosis doubtful. 30 years later it was reassessed with electrophysiologic and genetic studies and diagnosed as Goldman-Favre/Enhanced S Cone Syndrome (GFS/ESCS).
CONCLUSIONS AND IMPORTANCE: High phenotypic variability of GFS/ESCS makes it difficult to distinguish clinically from diseases such as retinitis pigmentosa, congenital retinoschisis, and gyrate atrophy. Electrophysiology and genetic studies aid in diagnosis. GFS/ESCS is a clinical diagnosis and should be suspected before molecular test. We present a novel mutation for this disease.