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Abstract
Juvenile macular degeneration is markedly variable in its clinical course, ophthalmoscopic appearance and age of onset. For many years authors have tried to classify the various macular dystrophies by their clinical course and by electrophysiological data. Recent studies show that these attempts are useless and suggest that the only classification acceptable today is a genetic one. According to the most recent findings, macular degeneration can be divided into two groups: an autosomal dominant group and a recessive one. The authors present a study involving five generations of a family, in which, following a consanguineous marriage, five members presented with macular degeneration. Tests to investigate urinary amino-acids and blood levels of mucopolysaccharides and oligosaccharides were carried out in each case to exclude metabolic disorders.