Japanese journal of ophthalmology · 2007
Abnormal retinal blood vessels in Ehlers-Danlos syndrome type VI.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Chikamoto Nobuhiko, Teranishi Shinichiro, Chikama Tai-Ichiro, Nishida Teruo, Ohshima Kenji, Hatsukawa Yoshikazu
Аннотация
BACKGROUND: Ehlers-Danlos syndrome (EDS) is a hereditary connective tissue disorder caused by defective collagen synthesis and categorized into 11 types based on genetic mutations and clinical features.(1) Its principal clinical characteristics include hyperelasticity and vulnerability of the skin and joints to laxity, and fragility of blood vessels.
CASE: We recently performed vitreous surgery with introduction of an artificial cornea and corneal allograft transplantation in a boy with EDS type VI, whose visual acuity had decreased rapidly because of vitreous hemorrhage.
OBSERVATIONS: An ultrasound examination revealed posterior vitreous detachment with fresh vitreous hemorrhage. After vitrectomy with introduction of an artificial cornea and cornea allograft transplant were carried out, visual acuity improved to 0.05 and was maintained for at least 22 months.
CONCLUSIONS: Abnormal collagen synthesis is thought to lead to systemic disorders such as hyperelasticity, vulnerability to skin and joint laxity, and fragile blood vessels in patients with Ehlers-Danlos syndrome.
CASE: We recently performed vitreous surgery with introduction of an artificial cornea and corneal allograft transplantation in a boy with EDS type VI, whose visual acuity had decreased rapidly because of vitreous hemorrhage.
OBSERVATIONS: An ultrasound examination revealed posterior vitreous detachment with fresh vitreous hemorrhage. After vitrectomy with introduction of an artificial cornea and cornea allograft transplant were carried out, visual acuity improved to 0.05 and was maintained for at least 22 months.
CONCLUSIONS: Abnormal collagen synthesis is thought to lead to systemic disorders such as hyperelasticity, vulnerability to skin and joint laxity, and fragile blood vessels in patients with Ehlers-Danlos syndrome.