Hereditary macular degeneration in three generations.

Abstract

Hereditary macular degeneration has a multifarious ophthalmoscopic appearance but is usually characterized by a sharply-defined, dense, homogenous, avascular disc resembling the intact yolk of a fried egg (Sorsby, I940; Fransois, I96I; Braley, I966). The appearance of the macula, however, may range from mild pigmentary degeneration to dense scarring with pigmentary hyperplasia. The clinical course of the macular lesion, the degree of visual impairment, and the age at onset of ocular symptoms also vary within and between families (Sorsby, 1940; Grimm and Tedford, I 963; Braley and Spivey, I 964). In spite of the polymorphism of the macular lesion, probably all forms of macular degeneration represent the same fundamental degenerative process (Berkley and Bussey, 1949; Fran~ois, 196I; McKusick, I971). This paper describes a family in which eight members in three generations have macular degeneration; two affected brothers also have alopecia congenita, one in addition has coarctation of the aorta, and their mother, who has macular degeneration, also has congenital aortic stenosis.

Retinal cadherins and the retinal cadherinopathies: Current concepts and future directions

“…A familial association of macular dystrophy with hypotrichosis was first reported in 1935 (Wagner, 1935) followed decades later by other confirmatory reports (Johnston et al, 1973, Kroll, 1981, Toussaint et al, 1978, Marren et al, 1992. Autosomal recessive inheritance was suggested in most reports as the most likely mode of inheritance.…”

Retinal Dystrophy Combined With Alopecia

“…Hereditary macular degeneration in three generations was described by Johnston, Darragh & Nevin (1973). In their report they described a family in which eight members in three generations had had macular degenerations.…”