Scientific Publications

Retinal vasculopathy in a family with autosomal dominant dyskeratosis congenita.

Publication TypeJournal Article
AuthorsJohnson, CA, Hatfield M., and Pulido JS
AbstractDyskeratosis congenita is a rare multisystem bone marrow failure genetic disorder characterized by reticular skin hyperpigmentation, nail dystrophy, and oral leukoplakia. Clinical ophthalmic features in these patients include retinal hemorrhages, retinal vasculopathy, telangiectasia, and macular exudates.
Year of Publication2009
JournalOphthalmic genetics
Volume30
Issue4
Pages181-4
Date Published (YYYY/MM/DD)2009/12/01
ISSN Number1381-6810
DOI10.3109/13816810903148012
PubMedhttp://www.ncbi.nlm.nih.gov/pubmed/19852575?dopt=Abstract