Retinal cases & brief reports · 2021
RETINAL DYSTROPHY IN A PATIENT WITH McARDLE DISEASE.
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.
Alsberge Joseph B, Chen Judy J, Zaidi Ali A, Fu Arthur D
Аннотация
PURPOSE: To report a case of pattern dystrophy in a patient with McArdle disease, a rare autosomal recessive disorder of glycogen metabolism.
METHODS: Case report.
RESULTS: A 29-year-old woman with a history of muscle biopsy-confirmed McArdle disease presented with fundus findings consistent with pattern dystrophy. Multimodal imaging, including optical coherence tomography and fundus autofluorescence, was performed.
CONCLUSION: To our knowledge, this is the third reported case of pattern dystrophy in a patient with McArdle disease.
METHODS: Case report.
RESULTS: A 29-year-old woman with a history of muscle biopsy-confirmed McArdle disease presented with fundus findings consistent with pattern dystrophy. Multimodal imaging, including optical coherence tomography and fundus autofluorescence, was performed.
CONCLUSION: To our knowledge, this is the third reported case of pattern dystrophy in a patient with McArdle disease.