Late-onset retinal macular degeneration: clinical insights into an inherited retinal degeneration. Issue 1007 (4th September 2009)

• Record Type: Journal Article
• Authors: Borooah, S; Collins, C; Wright, A; Dhillon, B
• Is Part Of: Postgraduate medical journal. Volume 85:Issue 1007(2009)
• Page Start: 495
• Page End: 500
• Publication Date: 2009-09-04
• Subjects: Medicine -- Periodicals; 610
• DOI: 10.1136/bjo.2008.150151
• Languages: English
• ISSNs: 0032-5473

Abstract

Abstract : 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.