Two siblings presenting with exudative retinopathy, thrombocytopenia, and 
macrocytosis were found to have markedly shortened telomeres and a previously 
unreported inherited mutation in TERT, c.2603A>G. Revesz syndrome, a subtype of 
dyskeratosis congenita (DC) caused by TINF2 mutation, combines marrow failure 
with exudative retinopathy, intracranial calcifications, and neurocognitive 
impairment. As our patients manifested neither intracranial calcification nor 
significant neurocognitive impairment, we conclude that the c.2603A>G TERT 
mutation may define a subtype of DC manifesting first as exudative retinopathy 
without other signs of DC. Children with exudative retinopathy should be 
periodically screened for macrocytosis and cytopenias to evaluate for underlying 
DC.