[Unusual associations of pattern dystrophies].
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.
D000293:Adolescent; D000328:Adult; D001284:Atrophy; D002196:Capillaries / Q000473:pathology; D002829:Choroid / Q000098:blood supply; D003937:Diagnosis, Differential; D005260:Female; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D005799:Genes, Dominant; D006319:Hearing Loss, Sensorineural / Q000150:complications / Q000235:genetics; D006801:Humans; D008268:Macular Degeneration / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010857:Pigment Epithelium of Eye / Q000473:pathology*
Associations inusuelles dans les dystrophies en réseau.