title: Vitreous hemorrhage secondary to retinal vasculopathy in a patient with dyskeratosis congenita.
abstract: The aim of this study was to report a case of vitreous hemorrhage secondary to retinal vasculitis in a patient with dyskeratosis congenita. A 16-year-old white male was referred to the Ophthalmology Clinic due to deterioration of vision in his left eye. Medical history was significant for dyskeratosis congenita associated with thrombocytopenia. General physical examination revealed reticular pigmentation on the upper half of the chest, vertical ridges and splitting of finger nails, and oral mucosal leukoplakia. Ophthalmological examination of the anterior segment was unremarkable. Retinal examination revealed vitreous hemorrhage in the left eye veiling the retinal details. A possible history of trauma was denied. Fundus examination of the right eye showed retinal vascular sheathing with a few dot and blot retinal hemorrhages. Fluorescein angiography revealed extensive areas of non-perfusion beyond the equator in the right eye, later treated with scatter laser photocoagulation. We performed a 23-gauge vitrectomy with endolaser treatment of the new vascularization areas in the left eye. After 6 months, best-corrected visual acuity in the right and left eye was 20/20 and 20/25, respectively. Rather than being confined to anterior segment abnormalities like conjunctivitis, blepharitis and nasolacrimal duct obstruction which are reported in the literature, dyskeratosis congenita can cause significant visual loss due to retinal vasculitis and vitreous hemorrhage. Therefore physicians and ophthalmologists should be aware of this possibility and prompt diagnosis and treatment could prevent further visual loss in such patients.
authors.affiliation: Ophthalmology Service, Department of Specialized, Diagnostic and Experimental Medicine, Policlinico Sant'Orsola-Malpighi, University of Bologna, Bologna, Italy, alessandrofinzi@alice.it.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Finzi
authors.forename: Mariachiara
authors.initials: M
authors.lastname: Morara
authors.forename: Francesco
authors.initials: F
authors.lastname: Pichi
authors.forename: Chiara
authors.initials: C
authors.lastname: Veronese
authors.forename: Antonio P
authors.initials: AP
authors.lastname: Ciardella
mesh_terms: D000293:Adolescent; D019871:Dyskeratosis Congenita / Q000150:complications*; D006801:Humans; D008297:Male; D031300:Retinal Vasculitis / Q000209:etiology*; D014823:Vitreous Hemorrhage / Q000209:etiology*