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Late onset retinal macular degeneration (L-ORMD) - Clinical insights into an inherited retinal degeneration
  1. Shyamanga R Borooah (shyamanga{at},
  2. Cian Collins (ciancollins{at},
  3. Alan Wright (alan.wright{at},
  4. Baljean Dhillon (bal.dhillon{at}
  1. Princess Alexandra Eye Pavilion, United Kingdom
  2. Princess Alexandra Eye Pavilion, United Kingdom
  3. MRC Human Genetics Unit, United Kingdom
  4. Princess Alexandra Eye Pavilion, United Kingdom


    We describe, in detail, the phenotype of late-onset retinal macular degeneration (L-ORMD) an inherited condition affecting both the retina and anterior segment. We propose a staging based on clinical characteristics and discuss the relevance of this condition to our understanding of age-related macular degeneration.

    Methods: A systematic review of the literature regarding this condition support 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 (Ser163Arg) in chromosome 11q. Affected individuals develop bilateral loss of vision, dark adaptation abnormalities, fundus drusen like yellow spots, mid peripheral pigmentation, choroidal neovascularisation, retinal 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 anti-vascular 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 and age related macular degeneration.

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