Kaufman S J, Goldberg M F, Orth D H, Fishman G A, Tessler H, Mizuno K
Arch Ophthalmol. 1982 Feb;100(2):272-8. doi: 10.1001/archopht.1982.01030030274008.
Autosomal dominant vitreoretinochoroidopathy is a newly described fundus dystrophy characterized by abnormal chorioretinal hypopigmentation and hyperpigmentation, usually lying between the vortex veins and the ora serrata for 360 degrees. In this zone, there are a discrete posterior boundary, preretinal punctate white opacities, retinal arteriolar narrowing and occlusion, and, in some cases, choroidal atrophy. Most affected family members have diffuse retinal vascular incompetence, cystoid macular edema, and presenile cataracts. The vitreous is characterized by fibrillar condensation and a moderate number of cells. Electroretinograms are normal in younger affected individuals and are only moderately abnormal in older ones. Preretinal neovascularization, present in the posterior pole, is progressive in the proband. There are no identifiable systemic or skeletal abnormalities, high myopia, optically empty vitreous, lattice degeneration, areas of white-without-pressure, retinal breaks, or retinal detachment; thus, previously described vitreoretinopathies can be excluded from diagnostic consideration. Progression of this diagnostic seems to be extremely slow in most family members.
常染色体显性遗传性玻璃体视网膜脉络膜病变是一种新描述的眼底营养不良，其特征为脉络膜视网膜色素减退和色素沉着异常，通常在涡静脉和锯齿缘之间呈360度分布。在该区域，有一个离散的后边界、视网膜前点状白色混浊、视网膜小动脉狭窄和闭塞，在某些情况下还有脉络膜萎缩。大多数受累家庭成员有弥漫性视网膜血管功能不全、黄斑囊样水肿和早发性白内障。玻璃体的特征是纤维状浓缩和中等数量的细胞。年轻受累个体的视网膜电图正常，而年长个体仅轻度异常。视网膜前新生血管出现在后极，在先证者中呈进行性发展。没有可识别的全身或骨骼异常、高度近视、玻璃体透明、格子样变性、无压迫变白区、视网膜裂孔或视网膜脱离；因此，先前描述的玻璃体视网膜病变可排除在诊断考虑之外。在大多数家庭成员中，这种诊断的进展似乎极其缓慢。
