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Fundus albipunctatus

Disease definition

Fundus albipunctatus is a rare, genetic retinal dystrophy disorder characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age.

ORPHA:227796

  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: H35.5
  • OMIM: 136880
  • UMLS: C0311338
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

Further information on this disease

Specialised Social Services

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