Stargardt病系慢性进行性遗传性黄斑变性疾病之一型,因 Stargardt 1909年首次报告而命名。此病我国报道尚少。笔者遇1例37岁男性患者,经眼底及荧光眼底造影等检查证实为 Stargardt 病。家系调查(3代21名)结果,其一兄一弟亦患病,双亲生前表型正常,非近亲通婚。子女无人发病,符合常染色体隐性遗传(图1)。例1 先证者,男,37岁。因视力减退两年,近一月加重入院。查体:智力良好,心、肺、神经 Stargardt’s disease is a type of chronic progressive hereditary macular degeneration named after Stargardt’s first report of 1909. The disease is still reported in our country. I met a 37-year-old male patient, the fundus and fundus fluorescein angiography and other tests confirmed Stargardt disease. Pedigree investigation (3 generations of 21) result, the one brother and brother are also sick, both parents of normal phenotype, non-relatives of marriage. No child onset, in line with autosomal recessive (Figure 1). Example 1 Proof, male, 37 years old. Due to vision loss for two years, increased hospital admission in January. Physical examination: good intelligence, heart, lung, nerve