Revesz syndrome(redirected from retinopathy exudative with bone marrow failure)
Revesz syndromeAn extremely rare condition (OMIM:268130) characterised by bilateral exudative retinopathy, intrauterine growth retardation, fine sparse hair, reticulated skin pigmentation, ataxia due to cerebellar hypoplasia, cerebral calcifications, extensor hypertonia, progressive psychomotor retardation and apparent chromosome instability.
Defects of TINF2, which encodes a protein of the shelterin complex that protects telomeres from being shortened by DNA repair, cause Revesz syndrome (retinopathy exudative with bone marrow failure).
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.