Bilateral Retinal Vasculopathy Associated with Autosomal Dominant Dyskeratosis Congenita

Abstract

Purpose To report a case of autosomal dominant dyskeratosis congenita (AD-DC) complicated by bilateral retinal vasculopathy and proliferative retinopathy with vitreous hemorrhage in the right eye, in the absence of pancytopenia. Methods We report a 32-year-old woman who presented with floaters in her right eye. She underwent complete ophthalmic examination and fundus fluorescein angiography. Results Funduscopic examination revealed vascular sheathing in the temporal periphery of both eyes and a vitreous hemorrhage in the right eye. Fluorescein angiography showed retinal neovascularization in the right eye and bilateral temporal peripheral capillary nonperfusion. Treatment consisted of laser photocoagulation directed to the areas of capillary nonperfusion in both eyes. A point mutation in the TERC gene confirmed the diagnosis of AD-DC. Conclusions Autosomal dominant dyskeratosis congenita is a rare form of inherited bone marrow failure and its presentation is milder than seen in patients with X-linked and autosomal recessive mutations. These patients may lack the classic clinical triad, so it is important to have a high index of suspicion and to be aware of retinal vasculopathy as a complication of dyskeratosis congenita as it may severely compromise vision. Appropriate treatment includes prompt laser photocoagulation to areas of retinal nonperfusion.

Bilateral Proliferative Retinopathy Associated With Hoyeraal-Hreidarsson Syndrome, a Severe Form of Dyskeratosis Congenita

“…6-9 A recent study that included 28 patients with DC found three of the patients had retinal vascular abnormalities, which included neovascularization, exudative retinopathy, and retinal detachment, 10 suggesting that retinopathy, although infrequent, is present in a significant minority of DC patients. Because retinopathy has been reported in autosomal dominant forms of DC, which can present later in life and with subtle systemic findings, 6,7 a high index of suspicion may be required to make the diagnosis.…”

Frosted Branch Angiitis in Pediatric Dyskeratosis Congenita

“…Retinal abnormalities are rare, 4 and have been reported in forms of hemorrhages, neovascularization, arteriosclerosis, retinal vascular sheathing, macular edema, preretinal fibrosis, nerve fiber layer infarction, and optic atrophy. 5–8 However, the vascular sheathing in the previously published description were mild and peripheral. 4,5 We encountered a boy who presented frosted branch angiitis (FBA) after recovery of mycoplasma pneumonia.…”

“…5–8 However, the vascular sheathing in the previously published description were mild and peripheral. 4,5 We encountered a boy who presented frosted branch angiitis (FBA) after recovery of mycoplasma pneumonia. To our knowledge, this is the first report of FBA in children with DC.…”

“…It may be attributed to the following pathogeneses: cell death signaling and apoptotic neuronal damage induced by TNF-α, 22 intensive tissue tropism of CMV virus for retinal and intravascular endothelial cells, and dysfunction of the dysplastic blood cells in DC with BMF. 5 …”

Pigmentary disorders of the eyes and skin

“…47 Only a small proportion of patients with dyskeratosis congenita had retinal vascular changes; however, early recognition and treatment of these changes can prevent retinal neovascularization, exudative retinopathy, and retinal detachment and, therefore, the related vision loss. 48,49 In addition to the syndromic manifestations, treatment of dyskeratosis congenitia with radiation or the use of steroids before stem cell transplantation will increase the risk of glaucoma and cataract formation. A baseline ophthalmologic exam and periodic eye exams are therefore recommended for every patient with dyskeratosis congenita.…”