Glacet-Bernard A, Soubrane G, Coscas G
Clinique Ophtalmologique Universitaire de Créteil, France.
J Fr Ophtalmol. 1990;13(8-9):407-20.
Since 1974 (Gass), many publications have referred to a macular abnormality that is similar to Best's vitelliform dystrophy, but occurs in adults and shows a normal or subnormal electro-oculogram. In our retrospective study, 85 patients with adult macular vitelliform degeneration were included; 31 patients out of 85 have been followed-up for periods ranging from one to ten years. Women (62,3%) were predominantly affected; the median age was 61 years (ranging from 37 to 81 years); family history did not reveal others affected members except in one case (mother and her son affected); electro-oculogram was recorded in 12 patients and was normal (8 patients) or slightly subnormal (4 patients). During follow-up, vitelliform lesions have shown progressive changes over many years, resulting in a round or oval atrophic area in the central retinal pigment epithelium. Visual acuity was fair at presentation but decreased progressively: at presentation, 43% of the eyes had visual acuity better or equal to 0.6; after 1 year, 59%; after 2 years, 28.5%; after 4 years, 20%, and only 8% of those followed-up for 10 years. Impairment of vision was usually related to alteration of the retinal pigment epithelium and macular atrophy, sometimes to subretinal neovascularization (14 eyes of 12 patients out of 157, or 15% of patients), or rarely to macular edema (2 cases). Several aspects of this disease are still controversial: firstly, the problem whether or not the disease represents a single nosological entity; secondarily its dominant inheritance. The analysis of our cases and of those already published seems to show that the macular changes observed are related to a single disease, well-defined by the epidemiology, the clinical aspects, the natural course. The late onset of the disease, the lack of constant familial involvement and the similarity with other retinal degenerative disorders seem to suggest that vitelliform macular lesions may represent a distinct subgroup of age-related macular degeneration, with a possible genetic predisposition.
自1974年（加斯）以来，许多出版物都提到了一种黄斑异常，它类似于贝斯特卵黄样营养不良，但发生在成年人中，且眼电图正常或低于正常水平。在我们的回顾性研究中，纳入了85例成年黄斑卵黄样变性患者；85例患者中有31例接受了1至10年的随访。女性（62.3%）受影响为主；中位年龄为61岁（范围为37至81岁）；家族史除1例（母亲和儿子均患病）外未发现其他患病成员；12例患者记录了眼电图，结果正常（8例）或略低于正常水平（4例）。在随访期间，卵黄样病变多年来呈现出渐进性变化，导致视网膜色素上皮中央出现圆形或椭圆形萎缩区。就诊时视力尚可，但逐渐下降：就诊时，43%的眼睛视力优于或等于0.6；1年后，59%；2年后，28.5%；4年后，20%，随访10年的患者中只有8%。视力损害通常与视网膜色素上皮改变和黄斑萎缩有关，有时与视网膜下新生血管形成有关（157只眼中12例患者的14只眼，即15%的患者），或很少与黄斑水肿有关（2例）。这种疾病的几个方面仍存在争议：首先，该疾病是否代表单一病种实体的问题；其次是其显性遗传。对我们的病例以及已发表病例的分析似乎表明，观察到的黄斑变化与单一疾病有关，通过流行病学、临床特征、自然病程可以很好地界定。该疾病发病较晚、家族受累情况不恒定以及与其他视网膜退行性疾病相似，似乎表明卵黄样黄斑病变可能代表年龄相关性黄斑变性的一个独特亚组，可能存在遗传易感性。
