Case Report: Novel Biallelic Variants in Causing an Inherited Bone Marrow Failure Spectrum Phenotype: An Odyssey to Diagnosis.

Bone marrow failure represents an umbrella diagnosis for several life-threatening disorders. In many people, the etiology remains unknown for a long time, leading to an odyssey to diagnosis, with numerous tests performed and sometimes inappropriate treatment. Biallelic pathogenic variants in the gene were recently discovered to cause bone marrow failure syndrome type 3, having phenotypic overlap with Fanconi anemia, dyskeratosis congenita, Shwachman-Diamond syndrome, and Diamond-Blackfan anemia.

Leukemic retinopathy, the first expression in a case of chronic myelomonocytic leukemia - a case report.

A 68-year-old male addressed to our clinic complaining of gradual loss of visual acuity and perceptual distortions. He had a history of extrathoracic hematoma and essential hypertension. The clinical assessment revealed bilateral retinal hemorrhages and white-green foveal and extrafoveal areas.