An inherited disorder with splenomegaly, cytopenias, and vision loss

作者：Tantravahi Srinivas K; Williams Lloyd B; Digre Kathleen B; Creel Donnell J; Smock Kristi J; DeAngelis Margaret M; Clayton Frederic C; Vitale Albert T; Rodgers George M^*

来源：American Journal of Medical Genetics, Part A, 2012, 158A(3): 475-481.

DOI：10.1002/ajmg.a.34437

• splenomegaly
• vision loss
• pancytopenia
• optic nerve edema
• cone-rod dystrophy

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.

• 出版日期2012-3