Blodi C F, Stone E M
Department of Ophthalmology, University of Iowa, Iowa City 52242.
Ophthalmic Paediatr Genet. 1990 Mar;11(1):49-59.
Best's vitelliform dystrophy is an autosomal dominant disease that pathologically affects the retinal pigment epithelium and symmetrically affects the macula of patients at a very young age. Visual acuity tends to remain quite good for long periods of time. In the later stages of the disease, atrophic changes of the retinal pigment epithelium or scarring secondary to subretinal neovascular membranes with hemorrhage may cause a loss of central visual acuity. An abnormal diminished light to dark ratio of the electrooculogram is the hallmark of the disease. No other significant ocular abnormalities or systemic problems have been associated with this genetic disorder. No therapy exists for halting the progression of the disease with the possible exception of laser photocoagulation treatment used to ablate subretinal neovascular membranes in an attempt to avoid complications of subretinal hemorrhages. However, an accurate diagnosis and pedigree analysis is important for allowing the physician to perform adequate family and genetic counseling to affected patients.
贝斯特卵黄样营养不良是一种常染色体显性疾病，病理上会影响视网膜色素上皮，在患者非常年轻时对称地累及黄斑。视力往往在很长一段时间内保持相当良好。在疾病后期，视网膜色素上皮的萎缩性改变或继发于伴有出血的视网膜下新生血管膜的瘢痕形成可能导致中心视力丧失。眼电图光暗比异常降低是该疾病的标志。没有其他明显的眼部异常或全身性问题与这种遗传性疾病相关。除了用于消融视网膜下新生血管膜以试图避免视网膜下出血并发症的激光光凝治疗外，不存在阻止疾病进展的疗法。然而，准确的诊断和系谱分析对于医生为受影响的患者进行充分的家庭和遗传咨询很重要。
