Noble K G, Scher B M, Carr R E
Br J Ophthalmol. 1978 Aug;62(8):561-70. doi: 10.1136/bjo.62.8.561.
Two dominantly inherited macular dystrophies demonstrate the difficulty in establishing a diagnosis based on the fundus appearance. In 1 family the propositus presented with unilateral retinal haemorrhage associated with subretinal choroidal neovascularisation which remained unilateral over an 8-year period. In the other family the propositus presented with bilateral central choroidal atrophy. All affected family members had an abnormal electro-oculogram and a normal electroretinogram, suggesting the diagnosis of vitelliform macular dystrophy. Since vitelliform macular dystrophy has a wide range of expressivity, with polymorphous appearances of the fundus, the diagnosis is best made by the presence of a dominant mode of inheritance and an abnormal electro-oculogram.
两种显性遗传性黄斑营养不良表明，仅根据眼底表现来确诊存在困难。在一个家族中，先证者出现单侧视网膜出血，并伴有视网膜下脉络膜新生血管形成，在8年期间一直保持单侧病变。在另一个家族中，先证者表现为双侧中心性脉络膜萎缩。所有患病家庭成员的眼电图均异常，而视网膜电图正常，提示诊断为卵黄样黄斑营养不良。由于卵黄样黄斑营养不良具有广泛的表现度，眼底外观多样，因此最好根据显性遗传方式和异常眼电图来进行诊断。
