Fundus dystrophy with unusual features; a histological study.

IN an earlier communication (Sorsby and Mason, 1949), an account was given of a fundus dystrophy observed in five families, which showed onset at about the age of 40, dominant inheritance, and a progressive course. The earliest ophthalmoscopical reactions in this affection are a central retinal lesion showing oedema, haemorrhage, and exudates. Subsequently, there is considerable scarring, with exposure or actual sclerosis of the choroidal vessels over a wide area, and associated pigmentary proliferation, sometimes massive. The end stage, reached after the disease has run its course for about 30 years, is a more or less uniform, widespread atrophy of the choroid with some pigmentation. In the early stages, therefore, the affection simulates a toxic, metabolic, or vascular macular reaction; in the intermediate stages the lesion spreads peripherally and the evidence for choroidal sclerosis may be very marked; and in the end stages there is sub-total retinal and choroidal atrophy. The clear-cut features of this affection were observed in another family by Burn (1950), whose patients were mainly of late middle age and showed strikingly the intermediate feature of choroidal sclerosis. In discussing the nature of the affection, the questions were raised whether this condition is related to " Doyne's choroiditis", and whether the primary disturbance is choroidal or retinal. The opportunity has now presented itself of examining histologically the eyes of the two affected members in one of the families recorded. Whilst this material has its value, it has also the considerable limitation that in this particular family the evidence for dominant inheritance was lacking. The two patients in question were elderly sisters, whose father had died at the age of 40t. The family history was incomplete, as the two sisters did not know of any relatives, but they were certain that both their parents had good sight. Since their mother died at the age of 64, it is unlikely that they inherited the affection from her, but one cannot exclude the father as poten-