This condition is related to a group of disorders known as dyskeratosis congenita discussed elsewhere in this database. It is a whole body disease often with life-threatening signs and symptoms. The eye disease can lead to blindness.
The most serious aspect of Revesz syndrome lies in the failure of the bone marrow to produce normal blood cells. Other features include malformed nails, scarring in the lungs and liver, sparse hair, lacy pigmentation patterns in the skin, and the formation of white plaques in the tissues lining the inside of the mouth. An increased risk of cancer, especially leukemia, is an important feature in the complex of dyskeratosis congenita disorders but the risk specific to Revesz syndrome is unknown due to the limited number of patients reported.
Features that distinguish Revesz syndrome from other types of dyskeratosis congenita include excess fluid in the retina of the eye (exudative retinopathy), brain abnormalities that lead to unsteadiness and balance problems, as well as growth retardation both in utero and after birth. In addition, calcium deposits are often seen in the brain. The degree of cognitive impairment is greater as well. The abnormal fluid in the eye is often diagnosed in small children because the pupil of the eye appears white (leukocoria) and may result in blindness.
This is an autosomal dominant condition because only one copy of the mutant gene is necessary for the disorder to make its appearance. Theoretically, a parent could transmit the disorder directly to a child with a 50% chance. In reality, however, few individuals live long enough to reproduce.
Diagnosis requires a multidisciplinary team of specialists due to the extensive nature of the disorder. Pediatricians, ophthalmologists, hematologists, dermatologists, and neurologists are likely to be involved. The condition usually presents in early childhood with eye signs and balance problems but it may be a decade or more before additional serious manifestations appear.
The prognosis is guarded, primarily as a result of bone marrow failure. Infections, liver failure, and lung failure are among the more serious problems. Lifelong monitoring for cancer and systemic disease are important.