MedElevator
Войти в исследования Ophthalmic genetics · 2021
Genetics and optical coherence tomography features in a child with an achromatic retinal patch.
Клинический случайСтатьяПоддержка NIH: внешняя программаПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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.
Ashkenazy Noy, Yannuzzi Nicolas A, Berrocal Audina M
Аннотация
BACKGROUND: Achromatic retinal patch is associated with tuberous sclerosis. Its role as a diagnostic feature is often overlooked.
MATERIALS AND METHODS: A clinical case was retrospectively reviewed and reported.
RESULTS: A 5-year-old male with a history of seizure disorder and a germline TSC2 variant was found to have a hypopigmented lesion in the nasal macula, most consistent with an achromatic retinal patch. The optical coherence tomography features of the retinal finding is illustrated.
CONCLUSIONS: We highlight the importance of performing a retinal exam and genetic testing in cases that do not otherwise meet the clinical diagnostic criteria for tuberous sclerosis. The significance of an achromatic retinal patch in the setting of a TSC gene mutation of unclear pathogenic potential remains unknown.
MATERIALS AND METHODS: A clinical case was retrospectively reviewed and reported.
RESULTS: A 5-year-old male with a history of seizure disorder and a germline TSC2 variant was found to have a hypopigmented lesion in the nasal macula, most consistent with an achromatic retinal patch. The optical coherence tomography features of the retinal finding is illustrated.
CONCLUSIONS: We highlight the importance of performing a retinal exam and genetic testing in cases that do not otherwise meet the clinical diagnostic criteria for tuberous sclerosis. The significance of an achromatic retinal patch in the setting of a TSC gene mutation of unclear pathogenic potential remains unknown.