Revesz syndrome

Revesz syndrome is an extremely rare and severe variant of dyskeratosis congenita, a group of inherited bone marrow failure syndromes caused by defective telomere maintenance. It is caused by compound heterozygous or homozygous mutations in the TINF2 gene, which encodes a component of the shelterin telomere protection complex. Revesz syndrome is characterized by the combination of features seen in dyskeratosis congenita — including bone marrow failure (aplastic anemia), nail dystrophy, and oral leukoplakia — with bilateral exudative retinopathy, which is the hallmark distinguishing feature of this condition. Intracranial calcifications (particularly affecting the cerebellum and basal ganglia) and intrauterine growth retardation are also characteristic findings. The disease typically presents in early childhood, often within the first few years of life, with progressive visual impairment due to exudative retinopathy resembling Coats disease. Affected children may also develop fine, sparse hair, hyperpigmented skin, and features of cerebellar hypoplasia. Bone marrow failure is a major life-threatening complication, leading to pancytopenia with increased susceptibility to infections and bleeding. Additional complications can include hepatic fibrosis and immunodeficiency. The prognosis of Revesz syndrome is generally poor, with most affected individuals succumbing to bone marrow failure or its complications in childhood. Treatment is primarily supportive and may include blood transfusions, growth factors, and management of infections. Hematopoietic stem cell transplantation (HSCT) is the only potentially curative treatment for the bone marrow failure component, though outcomes remain challenging due to the multisystem nature of the disease and the underlying telomere biology disorder. There is no specific treatment for the retinopathy, though laser photocoagulation or anti-VEGF therapy may be attempted to manage retinal complications.

Common questions about Revesz syndrome