Spitznas M, Gerke E, Bateman J B
Arch Ophthalmol. 1983 Mar;101(3):413-7. doi: 10.1001/archopht.1983.01040010413014.
Five patients had a bilateral hereditary ocular syndrome composed of posterior microphthalmos with a papillomacular fold and high hyperopia. Anterior segment dimensions were near normal; the vitreous compartment was markedly fore-shortened. A papillomacular retinal fold extending from the center of the fovea toward the optic nerve head was present. Visual acuity ranged from 0.05 (20/400) to 0.6 (20/33); refractive errors ranged from + 11.25 to + 17.50 diopters. An autosomal recessive pattern of inheritance is postulated.
五名患者患有双侧遗传性眼部综合征,其特征为后部小眼球、伴有乳头黄斑皱褶和高度远视。眼前节尺寸接近正常;玻璃体腔明显缩短。存在一条从中央凹中心向视神经乳头延伸的乳头黄斑视网膜皱褶。视力范围为0.05(20/400)至0.6(20/33);屈光不正范围为+11.25至+17.50屈光度。推测为常染色体隐性遗传模式。