Orphanet: Progressive bifocal chorioretinal atrophy
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Progressive bifocal chorioretinal atrophy

Disease definition

Progressive bifocal chorioretinal atrophy (PBCRA) is an early-onset chorioretinal dystrophy characterized by large atrophic macular and nasal retinal lesions, nystagmus, myopia, poor vision, and slow disease progression.

ORPHA:75373

Classification level: Disorder
  • Synonym(s):
    • CRAPB
    • PBCRA
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal, Infancy
  • ICD-10: H35.5
  • OMIM: 600790
  • UMLS: C1833321
  • MeSH: C535356
  • GARD: 10123
  • MedDRA: -

Summary

Epidemiology

It has been described in two large families.

Etiology

Transmission is autosomal dominant and the causative gene has been mapped to a region on chromosome 6q, close to the macular dystrophy retinal 1 (MCDR1) locus.

- Last update: September 2006

  A summary on this disease is available in Deutsch (2006) Español (2006) Français (2006) Italiano (2006) Nederlands (2006)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

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