Why is it necessary to examine retina when the patient suffers from aplastic anemia?
Revesz syndrome (RS) is characterized by fatal bone marrow failure, exudative retinopathy, neuroradiographic abnormalities, neurodevelopmental delay and skin abnormalities. Non-treated exudative retinopathy leads to blindness.
Results: Considering the hematological findings, clinical appearance and genetic tests of patients with RS, it has been found that the symptoms could be hematological or ophthalmological. So RS could combine with exudative retinopathy, which can be successfully treated by photocoagulation. The finding of a new pathogenic mutation in gene TINF2 helped in establishing the correct diagnosis.