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.