Ophthalmic genetics · 2004
Ocular findings in ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome.
Клинический случайСтатьяНазвание 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.
Traboulsi Elias, Waked Naji, Mégarbané Hala, Mégarbané André
Аннотация
PURPOSE: To report the ocular findings in two siblings with IFAP and their mother and to review the natural course of the keratopathy of this disease.
METHODS: Clinical ophthalmological examination of all patients and fundus photography of the carrier mother were performed.
RESULTS: Both affected male children had severe photophobia, total superficial and deep corneal vascularization, and reduction of vision to counting fingers.The mother had tortuous retinal vessels.
CONCLUSIONS: Males with IFAP have an inexorable progression of corneal vascularization and loss of vision. Retinal vascular tortuosity may be another clinical sign of carrier status in females.
METHODS: Clinical ophthalmological examination of all patients and fundus photography of the carrier mother were performed.
RESULTS: Both affected male children had severe photophobia, total superficial and deep corneal vascularization, and reduction of vision to counting fingers.The mother had tortuous retinal vessels.
CONCLUSIONS: Males with IFAP have an inexorable progression of corneal vascularization and loss of vision. Retinal vascular tortuosity may be another clinical sign of carrier status in females.