Revesz

Revesz Syndrome is a rare genetic disorder characterized by retinopathy, aplastic anemia, and cerebellar ataxia. It is named after the Hungarian pediatrician, Endre Revesz, who first described the condition in 1969.

Symptoms and Signs

The primary symptoms of Revesz Syndrome include retinopathy, a condition that affects the retina and can lead to vision loss; aplastic anemia, a condition where the body stops producing enough new blood cells; and cerebellar ataxia, a condition that occurs when the cerebellum becomes inflamed or damaged, resulting in lack of muscle control or coordination of voluntary movements.

Other symptoms may include growth retardation, intellectual disability, and skin changes such as hyperpigmentation or hypopigmentation.

Causes

Revesz Syndrome is caused by mutations in the TINF2 gene. This gene provides instructions for making a protein that is involved in the maintenance of telomeres, which are structures located at the ends of chromosomes that protect them from damage and improper recombination.

Diagnosis

Diagnosis of Revesz Syndrome is based on clinical findings and confirmed by genetic testing showing a mutation in the TINF2 gene.

Treatment

There is currently no cure for Revesz Syndrome. Treatment is supportive and symptomatic, focusing on managing the individual symptoms and complications. This may include blood transfusions or bone marrow transplant for aplastic anemia, physical therapy for cerebellar ataxia, and regular eye exams and possible interventions for retinopathy.

Prognosis

The prognosis for individuals with Revesz Syndrome varies. Some individuals may have a normal lifespan with managed symptoms, while others may have life-threatening complications such as severe aplastic anemia.

See Also

• Dyskeratosis congenita
• Hoyeraal-Hreidarsson syndrome

References

Revesz Resources
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