Clinical Characteristics
Ocular Features
Sorsby Pseudoinflammatroy Fundus Dystrophy is characterized by progressive degeneration of the central macula of the retina with edema, hemorrhages and exudates with pigment changes. The onset is typically in the second to fourth decade with development of a disciform central macular atrophy with white and yellow spots (not drusen). This is followed by subretinal neovascular membranes in the majority of patients. Further degeneration occurs over years and can spread from the center to the periphery of the retina with a corresponding visual field defect. Night blindness or difficulties adapting to changes in light intensity may be noted before the central macular degeneration occurs. In histopathologic studies, a subretinal deposit can be observed in Bruchs membrane.
Systemic Features
No general systemic manifestations are associated with Sorsby Pseudoinflammatory Fundus Dystrophy.
Genetics
Inheritance
Pedigree
Autosomal dominant
Autosomal dominant disorders require only one mutation for the disease to be expressed. Since an affected parent has two chromosomes, only one of which has the mutant gene, parents can expect that half (50%) of their children will receive that one and inherit the disease. It is common for individuals that inherit the mutation, however, to not have evidence of the disease (nonpenetrance).
Autosomal dominant inheritance leads to a vertical pattern of transmission