A 13-month-old boy with mild hemophilia A presented for strabismus evaluation 
and was found to have retinal hemorrhages in the right eye, left exotropia, and 
left total retinal detachment. These findings were attributed to trauma and 
hemophilia A. Routine blood work for hemophilia A subsequently showed 
pancytopenia. A bone marrow aspirate showed marked hypocellularity consistent 
with severe aplastic anemia, and telomere testing revealed very short telomeres. 
The patient was found to have a TINF2 mutation consistent with a diagnosis of 
Revesz syndrome, a variant of dyskeratosis congenita. He underwent successful 
bone marrow transplantation, and on subsequent evaluation was found to have 
retinal hemorrhages, vessel sclerosis, and cotton wool spots in the right eye 
associated with peripheral retinal nonperfusion. He underwent retinal laser 
treatment to the areas of retinal nonperfusion which resulted in stable visual 
function.