Revesz Syndrome

Alternative Names

  • Exudative Retinopathy with Bone Marrow Failure
  • Revesz Debuse Syndrome
  • Bilateral Coats Retinopathy Associated with Aplastic Anaemia and Mild Dyskeratotic Signs
  • Retinopathy Anemia CNS Anomalies
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WHO-ICD-10 version:2010

Diseases of the eye and adnexa

Disorders of choroid and retina

OMIM Number

268130

Mode of Inheritance

Isolated cases

Gene Map Locus

14q12

Description

Revesz syndrome is an extremely rare disorder characterized by bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities. Other features of this syndrome include intrauterine growth retardation, fine sparse hair, fine reticulate skin pigmentation, ataxia because of cerebellar hypoplasia, cerebral calcifications, extensor hypertonia, and progressive psychomotor retardation.

Molecular Genetics

There exists some evidence that the Revesz syndrome can be caused by mutations in the TRF1-Interacting Nuclear Factor 2 (TINF2) gene.

Epidemiology in the Arab World

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Other Reports

Sudan

Revesz et al. (1992) reported the case of a Sudanese male infant who was diagnosed with bilateral exudative retinopathy at six months of age. One month later, severe aplastic anemia developed, leading to his death at the age of 19 months. The features of the seemingly syndrome were intrauterine growth retardation, fine sparse hair, fine reticulate skin pigmentation, ataxia because of cerebellar hypoplasia, cerebral calcifications, extensor hypertonia, and progressive psychomotor retardation. In 1993, Revesz et al. reviewed the case and named the syndrome as RAC (retinopathy-aplastic anemia-central nervous system abnormalities).

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