[Pattern dystrophies and intrafamilial phenotypic variation].
BACKGROUND
Transmitted in an autosomal dominant fashion, the pattern dystrophies involve the retinal pigment epithelium and the external macular retina and are usually divided into four different entities. However, a progression from one form to another is possible, various forms may coexist in the same patient and a combination of different entities may be present in the same family.


METHODS
Two families (4 cases) are described, in which a butterfly dystrophy coexist with a vitelliform dystrophy or with a central atrophy. Whereas the vitelliform dystrophy 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.


CONCLUSIONS
The coexistence of various forms of pattern dystrophies in a same family suggests a variable expression of a same genetic disorder. The presence of a centromacular atrophy in one patient demonstrates also that the spectrum of the disease is not limited to the four classic entities.
Bernasconi
O R
OR
Service Universitaire d'Ophtalmologie, Hôpital Ophtalmique Jules Gonin.
Piguet
B
B
D000328:Adult; D000368:Aged; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D003317:Corneal Dystrophies, Hereditary / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D003937:Diagnosis, Differential; D005451:Fluorescein Angiography; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D008266:Macula Lutea / Q000473:pathology; D008297:Male; D010641:Phenotype; D010857:Pigment Epithelium of Eye / Q000473:pathology; D012162:Retinal Degeneration / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D015861:Retinal Neovascularization / Q000145:classification / Q000175:diagnosis / Q000235:genetics; D018630:Vitreoretinopathy, Proliferative / Q000145:classification / Q000175:diagnosis / Q000235:genetics
Pattern dystrophies et variation phenotypique intrafamiliale.