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Dyskeratosis congenita

Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.

Visual loss

Loss of visual acuity (implying that vision was better at a certain timepoint in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).

Total: 1

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PMID (PMCID)
24114504	MALE
	Vitreous hemorrhage secondary to retinal vasculopathy in a patient with dyskeratosis congenita.
	Finzi A, Morara M, Pichi F, Veronese C, Ciardella AP. Int Ophthalmol. 2014;34(4):923-6.
	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.