PATTERN DYSTROPHIES AND INTRAFAMILIAL PHE NOTYPIC VARIATION

Background Transmitted in an autosomal dominant fashion, the pattern d ystrophies involve the retinal pigment epithelium and the external mac ular retina and are usually divided into four different entities. Howe ver, a progression from one form to another is possible, various forms may co-exist in the same patient and a combination of different entit ies may be present in the same family. Case reports Two families (4 ca ses) are described, in which a butterfly dystrophy coexist with a vite lliform dystrophy or with a central atrophy. Whereas the vitelliform d ystrophy is usually characterised by a unique centromacular lesion, a case of multiple lesions is described. The possible association with a neovascular membrane is also presented. Conclusion The coexistence of various forms of pattern dystrophies in a same family suggests a vari able expression of a same genetic disorder. The presence of a centroma cular atrophy in one patient demonstrates also that the spectrum of th e disease is not limited to the four classic entities.