Revesz syndrome

Autosomal dominant - en

Revesz syndrome is a rare genetic disorder characterized by a combination of retinal degeneration, bone marrow failure, and other systemic abnormalities. It is a severe variant of dyskeratosis congenita, a condition that affects the telomeres, which are the protective caps at the ends of chromosomes.

Clinical Features

Individuals with Revesz syndrome typically present with a range of symptoms, including:

• Retinal degeneration leading to vision loss
• Bone marrow failure resulting in pancytopenia
• Cerebral calcifications
• Intracranial hemorrhage
• Developmental delay
• Skin abnormalities such as hyperpigmentation and nail dystrophy

Genetics

Revesz syndrome is caused by mutations in the TERT gene, which encodes the telomerase reverse transcriptase enzyme. This enzyme is crucial for maintaining the length of telomeres. Mutations in the TERT gene lead to critically short telomeres, which in turn cause the clinical manifestations of the syndrome.

Diagnosis

The diagnosis of Revesz syndrome is based on clinical findings and genetic testing. Key diagnostic criteria include:

• Presence of retinal degeneration
• Evidence of bone marrow failure
• Identification of mutations in the TERT gene through genetic testing

Management

There is no cure for Revesz syndrome, and treatment is primarily supportive. Management strategies include:

• Regular monitoring and treatment of bone marrow failure with hematopoietic stem cell transplantation if necessary
• Supportive care for vision loss
• Management of other systemic complications as they arise

Prognosis

The prognosis for individuals with Revesz syndrome is generally poor due to the severe nature of the condition and the risk of life-threatening complications such as bone marrow failure and intracranial hemorrhage.

See Also

• Dyskeratosis congenita
• Telomere
• Bone marrow failure
• Retinal degeneration

Related Pages

• Dyskeratosis congenita
• Telomerase
• Bone marrow
• Retina