Lodato G, Giuffré G
J Fr Ophtalmol. 1985;8(2):147-54.
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.
图案状营养不良是一组黄斑色素上皮的遗传性异常。它们包括网状、大网状和蝶翼状营养不良。有几例图案状营养不良与其他疾病相关的病例被报道。在一名患有视网膜色素上皮网状营养不良的患者中,该病与先天性遗传性耳聋并存。这两种病症可能由单个多效基因传递。除了黄斑区典型的网状图案外,还有萎缩区域,这可能是营养不良进展所致。另外两例来自同一个家庭,一名成员表现为与卵黄样黄斑营养不良相关的大网状营养不良,另一名表现为蝶翼状营养不良。这些发现证实了在同一家族中可出现不同类型图案状营养不良的观察结果,并证明此类病变可与卵黄样营养不良相关。由此提出一个假说,即图案状营养不良和卵黄样营养不良,尽管目前被描述为不同的临床实体,但实际上是一种以多种方式表现的单一疾病。