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MRCS syndrome

Disease definition

MRCS syndrome is a rare, genetic retinal dystrophy disorder characterized by bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400.

ORPHA:263347

Classification level: Disorder
  • Synonym(s):
    • Microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: -
  • OMIM: 193220
  • UMLS: C2674009
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

Further information on this disease

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