TY - JOUR T1 - Late-onset retinal macular degeneration: clinical insights into an inherited retinal degeneration JF - British Journal of Ophthalmology JO - Br J Ophthalmol SP - 284 LP - 289 DO - 10.1136/bjo.2008.150151 VL - 93 IS - 3 AU - S Borooah AU - C Collins AU - A Wright AU - B Dhillon Y1 - 2009/03/01 UR - http://bjo.bmj.com/content/93/3/284.abstract N2 - 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. ER -