Revesz syndrome is a fatal disease that causes exudative retinopathy and bone marrow failure.
[2] Other symptoms include severe aplastic anemia, intrauterine growth retardation, fine sparse hair, fine reticulate skin pigmentation,[3] ataxia due to cerebellar hypoplasia, and cerebral calcifications.
[5] Revesz syndrome is a genetic disease thought to be caused by short telomeres.
Patients with Revesz syndrome have presented with heterozygous mutations in TINF2 gene which is located on chromosome 14q12.
[citation needed] The syndrome is named after the author of the original case published in 1992.