论文部分内容阅读
遗传性变性眼病导致视力障碍或失明者日渐增多。已证实某些遗传性色素性视网膜变性伴有生化异常,如无β脂蛋白血症的BassenKornzweig综合征;血清植烷酸(Phytanic)升高的Refsum综合征;粘多糖尿症的Hunter、Hurler、Sanfilippo和Scheie综合征,以及高鸟氨酸血症(hy perornithinemia)的脉络膜视网膜回旋形萎缩(gyrate atrophy,GA)。从而提出了其它类型的视网膜变性,有可能是未被发现的先天代谢导常所致。 GA属毯层视网膜变性之一。色素上皮层、视网膜和脉络膜的进行性萎缩为其特征1895
Hereditary degenerative eye disease leads to increased visual impairment or blindness. Certain genetic retinitis pigmentosa has been associated with biochemical abnormalities such as Bassen Kornzweig syndrome without beta-lipoproteinemia; Refsum syndrome with elevated serum phytates (Phytanic); Hunter, Hurler, Sanfilippo and Scheie syndrome, and choroidal retinal gyrate atrophy (GA) in hyper ornithinemia. Thus proposing other types of retinal degeneration, possibly leading to undiscovered inborn errors of metabolism. GA is one of the subcapsular retinal degeneration. The pigment epithelium, the retina and choroidal progressive atrophy is characterized by 1895