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[Unusual associations of pattern dystrophies].

Authors: G, Lodato; G, Giuffré;

[Unusual associations of pattern dystrophies].

Abstract

Pattern dystrophies are a group of inherited abnormalities of the macular pigment epithelium. They include reticular, macroreticular and butterfly-wing dystrophies. Several cases of pattern dystrophies associated with other diseases are reported. In one patient with reticular dystrophy of the retinal pigment epithelium this was combined with congenital hereditary deafness. Both affections were probably transmitted by a single pleiotropic gene. Apart from the typical reticular pattern in the macula there were atrophic areas that could have resulted from progression of the dystrophy. The two other cases were from the same family, one member showing macroreticular dystrophy associated with vitelliform macular dystrophy, and another a butterfly-wing dystrophy. These findings confirm the observation that different pattern dystrophies can occur in the same family and prove that such lesions can be associated with vitelliform dystrophy. The hypothesis is raised that pattern dystrophies and vitelliform dystrophy, although presently described as different clinical entities, are a single disease expressed in various manners.

Keywords

Adult, Male, Adolescent, Choroid, Fundus Oculi, Hearing Loss, Sensorineural, Middle Aged, Capillaries, Pedigree, Diagnosis, Differential, Macular Degeneration, Humans, Female, Atrophy, Fluorescein Angiography, Pigment Epithelium of Eye, Genes, Dominant

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
9
Average
Top 10%
Top 10%
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