REVESZ SYNDROME
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ALTERNATE NAMES
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Revesz-DeBuse Syndrome; Revesz-Debuse Disease; Revesz Disorder; Exudative Retinopathy
with Bone Marrow Failure; Exudative Retinopathy with Bone Marrow Failure and Cerebellar
Hypoplasia
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DESCRIPTION
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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.
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DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING
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Diagnostic testing: The diagnosis of Revesz syndrome is usually made on a clinical basis.
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Laboratory blood testing includes complete blood counts (CBC);
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Hemoglobin electrophoresis;
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Quantitative hemoglobin A2;
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Quantitative hemoglobin F; and
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Testing for the TINF2 gene establishes the genetic diagnosis.
Physical findings: Physical examination may reveal:
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Excess fluid in the retina of the eye (exudative retinopathy);
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Brain abnormalities that may lead to unsteadiness and balance problems (ataxia);
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Hypopigmented sparse hair;
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ICD-9: 759.89
ICD-10: Q13.89
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PROGRESSION
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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.
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TREATMENT
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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.
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SUGGESTED PROGRAMMATIC ASSESSMENT*
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Suggested MER for
Evaluation:
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Clinical history and examination that describes the diagnostic features of the impairment;
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Laboratory reports documenting hemoglobin levels and electrophoresis (rule out other
hematologic disorders);
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Iron studies to document iron overload or liver toxicity;
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Genetic tests, such as HLA typing, may be done to evaluate for potential bone marrow
transplantation, but are not required for diagnosis; and
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Evidence measuring best corrected visual acuity or the extent of visual fields.
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Suggested Listings for Evaluation:
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DETERMINATION
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LISTING
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REMARKS
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Meets
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102.02 A or B
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Listing level severity must be documented; May need to evaluate under other affected
body systems.
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102.03 A, B or C
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Listing level severity must be documented; May need to evaluate under other affected
body systems.
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102.04
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Listing level severity must be documented; May need to evaluate under other affected
body systems.
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Equals
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7.17
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Listing level severity must be documented.
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107.03
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Listing level severity must be documented.
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110.08 B
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Listing level severity must be documented.
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* Adjudicators may, at their discretion, use the Medical Evidence of Record or the
listings suggested to evaluate the claim. However, the decision to allow or deny the
claim rests with the adjudicator.
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