An inherited disorder with splenomegaly, cytopenias, and vision loss.

Journal Article (Journal Article)

We describe a novel inherited disorder consisting of idiopathic massive splenomegaly, cytopenias, anhidrosis, chronic optic nerve edema, and vision loss. This disorder involves three affected patients in a single non-consanguineous Caucasian family, a mother and two daughters, who are half-sisters. All three patients have had splenectomies; histopathology revealed congestion of the red pulp, but otherwise no abnormalities. Electron microscopic studies of splenic tissue showed no evidence for a storage disorder or other ultrastructural abnormality. Two of the three patients had bone marrow examinations that were non-diagnostic. All three patients developed progressive vision loss such that the two oldest patients are now blind, possibly due to a cone-rod dystrophy. Characteristics of vision loss in this family include early chronic optic nerve edema, and progressive vision loss, particularly central and color vision. Despite numerous medical and ophthalmic evaluations, no diagnosis has been discovered.

Full Text

Duke Authors

Cited Authors

  • Tantravahi, SK; Williams, LB; Digre, KB; Creel, DJ; Smock, KJ; DeAngelis, MM; Clayton, FC; Vitale, AT; Rodgers, GM

Published Date

  • March 2012

Published In

Volume / Issue

  • 158A / 3

Start / End Page

  • 475 - 481

PubMed ID

  • 22307799

Pubmed Central ID

  • PMC4242507

Electronic International Standard Serial Number (EISSN)

  • 1552-4833

Digital Object Identifier (DOI)

  • 10.1002/ajmg.a.34437


  • eng

Conference Location

  • United States