[Doyne's macular heredodystrophy and benign monoclonal gammopathy. Genetic and pathogenetic correlations (author's transl)].
Doyne's macular heredodystrophy associated with benign monoclonal gammopathy was seen in 4 patients having genetic correlations in 3 generations. One case showed crystalline stromal corneal deposits. Based on this pathological association and the morphofunctional support of the pair, choriocapillaris Bruch's membrane, Doyne's macular heredodystrophy is considered as a symptom of the immunoglobulin deficiency syndrome (IgM). The pathogenicity of Doyne's macular dystrophy and of the secondary drusen is interpreted as a dynamic phenomenon related to all the morphofunctional changes occurring at the level of the choriocapillaris Bruch's membrane, and the pigmented epithelium.
D003315:Cornea / Q000473:pathology; D006801:Humans; D006942:Hypergammaglobulinemia / Q000150:complications / Q000235:genetics*; D007075:Immunoglobulin M / Q000032:analysis*; D008268:Macular Degeneration / Q000209:etiology / Q000235:genetics*; D010265:Paraproteinemias / Q000378:metabolism; D010857:Pigment Epithelium of Eye / Q000473:pathology; D014602:Uvea / Q000473:pathology
D007075:Immunoglobulin M
L'hérédodystrophie maculaire de Doyne et la gammopathie monoclonale bénigne. Corrélations génétiques et pathogéniques.