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Late-onset retinal macular degeneration: clinical insights into an inherited retinal degeneration
  1. S Borooah1,
  2. C Collins1,
  3. A Wright2,
  4. B Dhillon1
  1. 1
    Princess Alexandra Eye Pavilion, Chalmers Street, Edinburgh, UK
  2. 2
    MRC Human Genetics Unit, Edinburgh, UK
  1. Dr S Borooah, Princess Alexandra Eye Pavilion, Chalmers Street, Edinburgh EH3 9HA, UK; shyamanga{at}


Aim: This study describes, in detail, the phenotype of late-onset retinal macular degeneration (L-ORMD) an inherited condition affecting both the retina and anterior segment. A staging based on clinical characteristics is proposed, and the relevance of this condition to current understanding of age-related macular degeneration is discussed.

Methods: A systematic review of the literature regarding this condition supports a detailed description of the natural history. Clinical experiences in identifying, monitoring and managing patients are also presented.

Results: L-ORMD is a rare fully penetrant autosomal dominant condition resulting from a mutation in the C1QTNF5 gene on chromosome 11. Affected individuals develop bilateral loss of vision, dark-adaptation abnormalities, fundus drusen-like yellow spots, midperipheral pigmentation, choroidal neovascularisation, chorioretinal atrophy and long anteriorly inserted lens zonules. Patients may benefit from treatment with high-dose vitamin A.

Conclusions: Raised awareness of L-ORMD should lead to earlier diagnosis and improved care for patients. New antivascular endothelial growth factor treatment may provide a new possibility for management. A deeper insight into molecular and genetic mechanisms of L-ORMD may suggest avenues to explore new treatments of this disorder.

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  • Competing interests: None.

  • Patient consent: Obtained.