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Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome

Disease definition

Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by the association of posterior microphthalmia, retinal dystrophy compatible with retinitis pigmentosa, localized foveal schisis and optic disc drusen. Patients present high hyperopia, usually adult-onset progressive nyctalopia and reduced visual acuity, and, on occasion, acute-angle glaucoma.

ORPHA:251279

Classification level: Disorder
  • Synonym(s):
    • Nanophtalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Adult
  • ICD-10: Q15.8
  • OMIM: 611040
  • UMLS: C1970236
  • MeSH: -
  • GARD: -
  • MedDRA: -

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