Revesz syndrome

Revesz syndrome

An 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.

Molecular pathology
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).
References in periodicals archive ?
Cian suffers from Revesz Syndrome, a severe form of Dyskeratosis Congenita which affects one child in a million and involves the failure of the bone marrow to produce normal blood cells.
brave fighter Cian McDonnell is only child in Ireland with Revesz Syndrome