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Pigmented paravenous retinochoroidal atrophy

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Description

Pigmented paravenous chorioretinal atrophy is a stationary disease of the ocular fundus in which bone corpuscle pigmentation is seen in a paravenous distribution. Patients are usually asymptomatic; diagnosis is based on the characteristic fundus appearance. Most cases have been reported in males (summary by Traboulsi and Maumenee, 1986).

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance
  • X-linked inheritance

VARIANTS

82

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Genes

External Links

  • OMIM

    172870

  • Orphanet

    251295

  • HPO
  • Medgen

    C1868310

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