Brecher R, Bird A C
Department of Clinical Ophthalmology, Institute of Ophthalmology, Moorfields Eye Hospital, London.
Eye (Lond). 1990;4 ( Pt 1):210-5. doi: 10.1038/eye.1990.28.
Adult vitelliform macular dystrophy was first described by Gass as giving rise to bilateral, round or oval, yellow, symmetrical, subretinal lesions typically one-third to one-half disc diameter in size. Although Gass proposed that this was an autosomal dominant disease, doubt has been expressed as to whether or not it is heritable. We investigated the families of 12 patients who presented to our clinic with foveal lesions typical of adult vitelliform macular dystrophy and found familial involvement compatible with an autosomal dominant inheritance in ten, although it has not been conclusively proven in all families. In the remaining two patients, no familial involvement was detected, but in neither family were both parents available for examination so that autosomal dominant inheritance could not be ruled out. Over half (14/25) the patients with abnormal fundi were asymptomatic, and most had good visual acuity. However, two had visual acuities of less than 6/18 in both eyes. We conclude that adult vitelliform macular dystrophy is an autosomal dominant disorder, and the term would be best reserved for foveal lesions similar to that described by Gass with a dominant pattern of inheritance.
成人卵黄样黄斑营养不良最早由加斯描述，其特征为双侧出现圆形或椭圆形、黄色、对称的视网膜下病变，大小通常为视盘直径的三分之一至二分之一。尽管加斯提出这是一种常染色体显性疾病，但对于其是否具有遗传性仍存在疑问。我们对12例因典型成人卵黄样黄斑营养不良性黄斑病变前来我院就诊的患者家属进行了调查，发现其中10例存在符合常染色体显性遗传的家族性受累情况，不过并非所有家族都得到了确凿证实。在其余2例患者中，未检测到家族性受累情况，但两个家族均未对父母双方进行检查，因此不能排除常染色体显性遗传。超过半数（14/25）眼底异常的患者无症状，且大多数视力良好。然而，有2例患者双眼视力低于6/18。我们得出结论，成人卵黄样黄斑营养不良是一种常染色体显性疾病，该术语最好仅用于与加斯所描述的具有显性遗传模式的黄斑病变相似的情况。
