Orphanet: Ocular cystinosis
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Ocular cystinosis

Disease definition

Ocular cystinosis is the benign, adult form of cystinosis (see this term), a metabolic disease characterized by an accumulation of cystine crystals in the cornea and conjunctiva responsible for tearing and photophobia and associated with no other additional manifestations.

ORPHA:411641

Classification level: Subtype of disorder
  • Synonym(s):
    • Adult-onset cystinosis
    • Non-nephropathic cystinosis
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Adult
  • ICD-10: E72.0
  • OMIM: 219750
  • UMLS: C2931013
  • MeSH: -
  • GARD: 9756
  • MedDRA: -

  A summary on this disease is available in Español (2014) Italiano (2014) Nederlands (2014) Polski (2014, pdf)

Detailed information

General public

Guidelines

Disease review articles

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

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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