Klinische Monatsblatter fur Augenheilkunde · 1996
[Pattern dystrophies and intrafamilial phenotypic variation].
Клинический случайАннотация на английскомСтатьяНазвание и аннотация: Перевод в очереди
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Bernasconi O R, Piguet B
Аннотация
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.
CASE REPORTS: 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.
CONCLUSION: 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.
CASE REPORTS: 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.
CONCLUSION: 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.