Princess Alexandra Eye Pavilion, Chalmers Street, Edinburgh EH3 9HA, UK.
Postgrad Med J. 2009 Sep;85(1007):495-500. doi: 10.1136/bjo.2008.150151.
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.
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.
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.
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.
本研究详细描述了晚期视网膜黄斑变性（L-ORMD）的表型，这是一种影响视网膜和前段的遗传性疾病。提出了一种基于临床特征的分期方法，并讨论了这种情况与目前对年龄相关性黄斑变性的理解的相关性。
对该疾病的文献进行系统回顾，以支持对其自然史的详细描述。还介绍了识别、监测和管理患者的临床经验。
L-ORMD 是一种罕见的完全外显的常染色体显性遗传疾病，由 11 号染色体上的 C1QTNF5 基因突变引起。受影响的个体会出现双侧视力丧失、暗适应异常、眼底类似 drusen 的黄斑黄色斑点、中周边色素沉着、脉络膜新生血管形成、脉络膜视网膜萎缩和长的向前插入的晶状体带状物。患者可能受益于高剂量维生素 A 的治疗。
提高对 L-ORMD 的认识应导致对患者的早期诊断和更好的治疗。新型抗血管内皮生长因子治疗可能为该疾病的治疗提供新的可能性。对 L-ORMD 的分子和遗传机制的更深入了解可能会为探索这种疾病的新治疗方法提供途径。
