Patients presenting to an ophthalmologist with macular drusen at a young age is not an uncommon scenario in medical retina clinics. These young patients want to be informed regarding their future visual prognosis, possible impact on occupation or activities of daily living, and most importantly, any prospect of treatment. What criteria could contribute to an ophthalmologist’s confidence in diagnosing early-onset age-related macular degeneration (AMD) as opposed to the early features of an inherited macular dystrophy, such as Doyne retinal dystrophy/Malattia Leventinese or Sorsby fundus dystrophy? In this issue of JAMA Ophthalmology, de Breuk et al¹ report the findings of a genotype-phenotype study in patients with early-onset macular drusen. The authors have used the term early-onset drusen maculopathy (EODM) to describe younger (≤55 years) patients with macular drusen and compared 89 patients with EODM with 91 patients diagnosed with AMD who were 65 years or older.

年轻时就诊于眼科医生的黄斑玻璃膜疣患者在医学视网膜诊所中并不少见。这些年轻患者希望了解他们未来的视力预后、对日常生活的职业或活动的可能影响，最重要的是，了解任何治疗前景。与遗传性黄斑营养不良的早期特征（例如 Doyne 视网膜营养不良/Malattia Leventinese 或 Sorsby 眼底营养不良）相比，哪些标准有助于眼科医生对诊断早发性年龄相关性黄斑变性 (AMD) 的信心？在本期JAMA Ophthalmology中，de Breuk 等人¹报告早发性黄斑玻璃疣患者的基因型-表型研究结果。作者使用早发性玻璃膜疣 (EODM) 一词来描述年轻（≤55 岁）的黄斑玻璃膜疣患者，并将 89 名 EODM 患者与 91 名被诊断为 65 岁或以上的 AMD 患者进行了比较。