Revesz syndrome


Revesz syndrome is a fatal disease that causes exudative retinopathy and bone marrow failure. Other symptoms include severe aplastic anemia, intrauterine growth retardation, fine sparse hair, fine reticulate skin pigmentation, ataxia because of cerebellar hypoplasia, cerebral calcifications. Its effects are similar to that of Hoyeraal-Hreidarsson Syndrome [1], which is related to Dyskeratosis congenita.


Anemia Retinopathy Brain calcification Central nervous system anomalies Underdeveloped cerebellum


The disease is genetic in nature.