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Progressive bifocal chorioretinal atrophy

Synonym(s) CRAPB
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset Neonatal
ICD-10 -
  • C1833321
  • C535356
MedDRA -


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.


It has been described in two large families.


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.

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