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Retinal degeneration-nanophthalmos-glaucoma syndrome

Disease definition

Retinal degeneration-nanophthalmos-glaucoma syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive.

ORPHA:1574

Classification level: Disorder
  • Synonym(s):
    • Mackay-Shek-Carr syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Adult
  • ICD-10: H35.5
  • OMIM: 267760
  • UMLS: C2931831
  • MeSH: -
  • GARD: 395
  • MedDRA: -
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