Retinitis Pigmentosa and Erythrocytic Microcytosis (RPEM)

Retinitis Pigmentosa and Erythrocytic Microcytosis, also known as rpem, is related to sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay and immune deficiency disease, and has symptoms including angina pectoris, chest pain and edema. An important gene associated with Retinitis Pigmentosa and Erythrocytic Microcytosis is TRNT1 (TRNA Nucleotidyl Transferase 1). The drugs Foscarnet and Ganciclovir have been mentioned in the context of this disorder. Affiliated tissues include bone marrow and b cells, and related phenotypes are photoreceptor layer loss on macular oct and anemia