Orphanet: Retinitis punctata albescens
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Retinitis punctata albescens

Disease definition

A progressive form of familial flecked retinopathy characterized by white punctata throughout the fundus (but sparing the macula in the early stages). Patients present with nightblindness in childhood and may also experience a loss of visual acuity. Significant loss of vision is reported in the 5th and 6th decades of life.

ORPHA:52427

Classification level: Disorder
  • Synonym(s):
    • RPA
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal recessive or Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: H35.5
  • OMIM: 136880
  • UMLS: C0311338  C1405854
  • MeSH: -
  • GARD: -
  • MedDRA: -
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