COMPASSIONATE ALLOWANCE INFORMATION
Revesz-DeBuse Syndrome; Revesz-Debuse Disease; Revesz Disorder; Exudative Retinopathy with Bone Marrow Failure; Exudative Retinopathy with Bone Marrow Failure and Cerebellar Hypoplasia
Revesz Syndrome is a congenital disorder characterized by aplastic anemia (failure of the blood system) and retinopathy (degenerative disease of the retina), and anomalies in the central nervous system. This disorder has effects similar in severity and fatality to that of Hoyeraal-Hriedarsson Syndrome (see Hoyeraal-Hriedarsson impairment summary). This disorder usually presents in early childhood with signs of progressively worsening eye and balance problems; significant developmental delay and intellectual disability; and characteristic skin changes. Revesz Syndrome is caused by mutations in the TRF1-Interacting Nuclear Factor 2 (TINF2) and telomeres.
DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING
Diagnostic testing: Diagnosis is usually made on a clinical basis. Laboratory blood testing includes complete blood counts (CBC); reticulocyte counts; hemoglobin electrophoresis; quantitative hemoglobin A2; and quantitative hemoglobin F. testing for the TINF2 gene establishes the genetic diagnosis.
Physical findings: Physical examination may reveal excess fluid in the retina of the eye (exudative retinopathy); retinal detachment; retinitis pigmentosa; brain abnormalities that may lead to unsteadiness and balance problems (ataxia); delays in growth; hypopigmented sparse hair; tongue ulcers; atrophic nail changes; hypolastic anemia; and cerebral calcifications.
ONSET AND PROGRESSION
Signs and symptoms of this disorder usually present in childhood between 5 and 15 years of age. Children develop symptoms of visual disturbances and balance problems. As the disease progresses severe vision loss and blindness may occur depending on the degree of retinal and vitreous disease. The overall prognosis for individuals with this disease is guarded, primarily as a result of bone marrow failure, infections, liver failure and lung failure.
Treatment for this disorder is symptom specific and may require a multidisciplinary team of specialists. The treatment team would likely consist of a pediatrician, ophthalmologist, hematologist, dermatologist, and neurologist. The most serious consequence of this disease is bone marrow failure, and the only long-term cure has been with stem cell/bone marrow transplantation. Life-long medical monitoring is required for systemic and ocular disease.
SUGGESTED PROGRAMMATIC ASSESSMENT*
Suggested MER for evaluation:
Clinical history and examination that describes the diagnostic features of the impairment.
Laboratory reports documenting hemoglobin levels and electrophoresis (rule out other hematologic disorders); iron studies to document iron overload or liver toxicity.
Genetic tests, such as HLA typing, may be done to evaluate for potential bone marrow transplantation, but are not required for diagnosis.
Evidence measuring best corrected visual acuity or the extent of visual fields.
Suggested Listings for Evaluation:
102.02 A or B
102.03 A, B or C
Listing level severity must be documented; May need to evaluate under other affected body systems.
Listing level severity must be documented.
* Adjudicators may, at their discretion, use the Medical Evidence of Record or Listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.