BACKGROUND: Revesz syndrome is a telomere disorder in the dyskeratosis congenita 
(DKC) spectrum characterized by exudative retinopathy, bone marrow failure, 
neuroradiographic abnormalities, and integumentary findings.
MATERIALS/METHODS: We report the ophthalmologic findings, documented by 
examinations under anesthesia with clinical photography and fluorescein 
angiography, as well as the systemic manifestations and genetic and molecular 
testing, in identical twins with Revesz syndrome, and compare and contrast these 
features to those of other pediatric retinal vasculopathies.
RESULTS: Both twins exhibited widespread avascularity and anomalous vasculature 
of the retinal periphery, retinal telangiectasias, and exudation. One twin 
developed a combination exudative/tractional/rhegmatogenous retinal detachment, 
while the other exhibited a focal collection of buds of retinal 
neovascularization. Both twins developed bone marrow failure and were found to 
have cerebellar hypoplasia and widespread cerebral calcifications. Telomere 
testing in lymphocytes and granulocytes revealed telomere length less than the 
1st percentile for age, and gene sequencing revealed a novel mutation in the 
TINF2 gene, resulting in the T284P TIN2 protein variant.
CONCLUSIONS: We report ophthalmic findings in twins with Revesz syndrome due to 
a previously unreported mutation in TINF2 and propose that phenotypic and 
molecular overlaps between DKC spectrum disorders and pediatric retinal 
vasculopathies may reflect a shared pathophysiologic basis.