This is the first report of genotype-phenotype correlation in a large cohort of Moroccan PCG. Our results revealed that the worst phenotype and prognosis were observed in the double null CYP1B1 allele carriers followed by the nondouble null but other CYP1B1 mutations. This will contribute to the prediction of the prognosis of the disease.
Purpose Acute lymphoblastic leukemia is a severe affection related to invasion of the bone marrow by immature haematopoietic cells of the lymphoid lineage. Retinal hemorrhages with white center are secondary to a specific pathophysiological mechanism. They are exceptional when revealed acute leukemia.
Methods Through clinical observation of a case of acute lymphocytic leukemia revealed by retinal hemorrhages with white center, we recall the pathophysiological mechanisms and clinical aspects of this rare retinal disease.
Results A 16 years old child consult for myodesopsia in his left eye. The ophtalmological examination show a correct visual acuity 10/10 P2 in the right eye and 9/10 P2 in the left. We note a discolored conjunctiva with vascular occlusions. The examination of the fundus of eyes reveal a diffuse retinal hemorrhages with white center. The blood count analysis show ; 120.000/mm3 WBC, Hb 3.5 g / dl and platelet 37.000/mm3. The diagnosis of acute lymphoblastic leukemia is made. The child is cared for in a pediatric oncology service. He received a blood transfusion and chemotherapy with complete remission at the last control.
Conclusion Ophthalmologic examination has a major interest in the diagnostic and therapeutic management of this disease.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.