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June 1960

A Family Group with Asymptomatic Macular Defects Inherited Dominantly

Author Affiliations

London; Swindon, England
Royal College of Surgeons and Royal Eye Hospital, London (Dr. Sorsby).

AMA Arch Ophthalmol. 1960;63(6):918-922. doi:10.1001/archopht.1960.00950020920004

Report of Cases  The patient, a boy age 14, was seen on account of a minor injury to the right eye. Visual acuity was right 6/6 pt., left 6/9 pt. Both fundi (Fig. 1) showed an extensive atrophic lesion at the posterior poles with heavy pigmentary disturbances and colloid body formation. The unexpectedly good vision with such a heavy central lesion, and the symmetry of the lesion as between the two eyes, led to the examination of his family with the result recorded in the Pedigree Figure (Fig. 5). It will be seen that apart from this boy—whose color vision was normal and who had no difficulty in seeing in the dark-six other affected individuals were found: his only brother, his mother, and her mother, as also two maternal aunts and the son of one of them. The ophthalmoscopic appearances observed fell into two distinct groups:

1. Heavy Central Involvement