Revesz syndrome

Revesz syndrome
Other names	Dyskeratosis congenita with bilateral exudative retinopathy [1]
Revesz syndrome is inherited in an autosomal dominant manner
Causes	Genetic

Revesz syndrome is a fatal

Revesz syndrome is a genetic disease thought to be caused by short telomeres. Patients with Revesz syndrome have presented with heterozygous mutations in TINF2 gene which is located on chromosome 14q12. There is no treatment for this disease yet.^{[citation needed]}

Diagnosis

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Epidemiology

Revesz syndrome has so far been observed only in children. There is not much information about the disease because of its low frequency in general population and under reporting of cases.^{[citation needed]}

History

The syndrome is named after the author of the original case published in 1992.