Adult vitelliform macular dystrophy

Abstract

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.