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Bothnia retinal dystrophy

Disease definition

Bothnia retinal dystrophy is a rare form of retinal dystrophy, seen mostly in Northern Sweden, presenting in early childhood with night blindness and progressive maculopathy with a decrease in visual acuity, eventually leading to blindness by adulthood. Retinal degeneration, without obvious bone spicule formation, accompanied by affected visual fields and the typical presence of retinitis punctata albescens (see this term) in the posterior pole are also noted.

ORPHA:85128

Classification level: Disorder
  • Synonym(s):
    • Västerbotten dystrophy
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: H35.5
  • ICD-11: 9B70
  • OMIM: 607475
  • UMLS: C1843816
  • MeSH: C564392
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Italiano (2016) Deutsch (2016) Español (2016) Nederlands (2016)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.