Hereditary Degenerative Macular Lesions with Inflammatory Signs and Late Visual Disturbance.

THE ophthalmoscopic appearances of hereditary degenerative macular lesions vary greatly, as do the functional disturbances produced, the time of onset, the course, and the mode of inheritance. Behr (1920), finding the time of onset fairly constant in the members of one sibship, classified hereditary macular degeneration on this basis, starting with the congenital cases (Best, 1905), proceeding to the juvenile and adolescent types (Stargardt, 1909, 1913, 1919), and ending with the senile. The time of onset, however, is difficult to estimate precisely if the visual disturbance is not serious or starts late in the course of the disease. It is now known that the disease may start at different ages even in one sibship. Furthermore, the great variety of lesions that may be encountered in any one of Behr's groups does not assist our understanding of the site and nature of a given lesion. Sorsby, Mason, and Gardener (1949) proposed an anatomical classification of the lesions: those localized primarily in the choroid (central choroidal sclerosis), those in Bruch's membrane (angioid streaks) or in the neuroepithelium (central retinal dystrophy), and possibly also those in the ganglion cells or the vascular retinal supply. Two important points should be borne in mind: (1) Comparison of the functional disturbance with the ophthalmoscopical aspect of a lesion, especially in early cases, can help to locate the primary site of the lesion; (2) In some degenerative lesions the macular appearance is not very characteristic in early cases. In central choroidal sclerosis (Sorsby and Crick, 1953) the early stage showed light exudative changes and/or fine pigmentary mottling, whereas in the older patients the picture was typical. In other heredo-degenerative lesions, e.g. vitelliform macular degeneration, the early stages are the most typical. If the lesions can be studied at different stages covering two or three generations more complete information as to their type can be obtained.