Patterned dystrophies of the retinal pigment epithelium (RPE) refer to a heterogeneous group of macular disorders. Three main varieties of patterned dystrophy of the RPE have been described: reticular ('fishnet-like') dystrophy, macroreticular ('spider-shaped') dystrophy, and butterfly-shaped pigment dystrophy of ...Patterned dystrophies of the retinal pigment epithelium (RPE) refer to a heterogeneous group of macular disorders. Three main varieties of patterned dystrophy of the RPE have been described: reticular ('fishnet-like') dystrophy, macroreticular ('spider-shaped') dystrophy, and butterfly-shaped pigment dystrophy of the fovea
Deutman et al. (1970) described 4 of 5 brothers and the son of 1 of them with a peculiar, bilateral, butterfly-shaped pigment dystrophy of the fovea. Although electrooculogram indicated a diffuse abnormality of the retina, there was little or ...Deutman et al. (1970) described 4 of 5 brothers and the son of 1 of them with a peculiar, bilateral, butterfly-shaped pigment dystrophy of the fovea. Although electrooculogram indicated a diffuse abnormality of the retina, there was little or no impairment of vision. The disorder was characterized by abnormal pigment at the level of the RPE. This material is yellow, white, or black, and often accumulates in an usual configuration consisting of 3 to 5 'arms' or 'wings' that resemble the wings of a butterfly. The material can be detected in some patients in the second decade of life but affected individuals most commonly become symptomatic in their late twenties or early thirties. Hsieh et al. (1977) observed a family in which the mother had probable reticular dystrophy, whereas a daughter had macroreticular dystrophy and a son had butterfly-shaped pigment dystrophy. They questioned the previously assumed distinctness. Marmor and Byers (1977) reported 3 generations of a family with alterations in the RPE. Younger members had granular pigment dispersed beneath the fovea, while older members showed a reticular pigment pattern, similar to other pigment dystrophies. Watzke et al. (1982) reported 2 pedigrees with pattern dystrophy. They noted that onset was usually in the second and third decade with great phenotypic variability. De Jong and Delleman (1982) described 1 family with 3 different manifestations of pigment epithelial pattern dystrophy: butterfly dystrophy, reticular dystrophy, and fundus pulverulentus. All led to the same results with regard to visual acuity, visual fields, dark adaptation, electroretinogram, and electrooculogram. Inheritance was autosomal dominant. The authors suggested that the phenotypes are different expressions of the same pigment epithelial dystrophy. Giuffre and Lodato (1986) reported 3 sibs with different phenotypes. The first sib had macroreticular dystrophy associated with butterfly-shaped dystrophy in one eye and with vitelliform cyst in the other eye. The second sib showed the atrophic outcome of a vitelliform cyst with development of subretinal neovascular membranes in one eye, and a radial pigmented macular dystrophy in the other eye. The third sib had bilateral macular vitelliform lesions. Daniele et al. (1996) reported 2 families in which affected members showed different patterned alterations in the RPE, suggesting that a single pathogenic mechanism is involved in several forms
In affected members of families segregating butterfly dystrophy of the RPE, Nichols et al. (1993, 1993) identified mutations in the PRPH2 gene (179605.0009-179605.0010).