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

Journal Article (Journal Article)

Dyskeratosis congenita (DC) is the prototypical member of a family of diseases caused by defective telomere maintenance. These "telomeropathies" also include Hoyeraal-Hreidarsson syndrome (HH) and Revesz syndrome, which are severe forms of dyskeratosis congenita, as well as a subset of idiopathic pulmonary fibrosis, aplastic anemia, and Coats' plus syndrome. Retinopathy has only rarely been reported in DC and HH, but is universally present in Coats' plus and Revesz syndromes. The care of these patients is typically a multidisciplinary effort, and this should include monitoring by an ophthalmologist.

Full Text

Duke Authors

Cited Authors

  • Allingham, MJ

Published Date

  • April 1, 2016

Published In

Volume / Issue

  • 47 / 4

Start / End Page

  • 366 - 368

PubMed ID

  • 27065378

Pubmed Central ID

  • PMC5217527

Electronic International Standard Serial Number (EISSN)

  • 2325-8179

Digital Object Identifier (DOI)

  • 10.3928/23258160-20160324-11


  • eng

Conference Location

  • United States