Revesz syndrome

Revesz syndrome has been observed only in children.

Most physicians are simply unaware that the subset of symptoms associated with Revesz syndrome comprise a distinct disorder.

Revesz syndrome is a fatal disease that causes exudative retinopathy and bone marrow failure.

The disorder was suspected of being allelic with either the Revesz syndrome or leukoencephalopathy with calcifications and cysts.

Patients with Revesz syndrome have presented with mutations in TINF2 and aspects of telomerase, both of which cause short telomeres.

These were previously known as the Hoyeraal-Hreidarsson syndrome and the Revesz syndrome but today we know that they have the same underlying abnormality and are caused at least in part by mutations in the same genes responsible for dyskeratosis congenita.