The Bowman lecture on some hereditary diseases of the eye

Abstract

London : Dulau and Co. Accordingly we find a general belief in the medical profession that in diseases so relatively infrequent as retinitis pigmentosa and deaf-mutism consanguinity of the parents plays an important part. And the same is true of some other conditions where, as in the diseases just named, both sexes are liable to suffer from, and both liable to transmit, the disease. But in sex-limited conditions, such as Leber's disease and congenital colour-blindness, where only the males suffer, though the disease is carried down by (apparently) normal females, consanguinity of parents is known to be infrequent. If we start with a colour-blind male we know * Some particulars of this pedigree will be found at p. cvm.

Retinal Changes Associated With Diabetes and With Hypertension

“…Enlargement and beading of the veins in cases of diabetes were demonstrated by Nettleship,4 in 1888, and more recent references have been made by Gray,5 Braun,6 Bonnet and Bonamour,7 O'Brien and Allen,8 Agatston°a nd Gibson and Smith.10 Most instructive are the illustrations in the paper of O'Brien and Allen, and the same changes are also represented in figures 6 A and and 7). The principal branches of the central retinal vein are full, tortuous and variable in caliber, but these changes are not of uniform distribu¬ tion ; they are limited to individual branches or to segments of branches.…”

Complicated Optic Atrophy (Behr’s Disease) Associated with Epilepsy and Amino Acid Imbalance

“…The altered motor nerve conduction in most of the siblings is not in disagreement with our diagnosis, since it has been found to be slower than normal in many instances of Fried reich ataxias (7). The association with epilepsy is the first one to be described, although cases of Leber's optic atrophy with epilepsy were mentioned in earlier works (8,9). The neuroradiological signs of cortical atrophy ( fig.…”

Retinitis pigmentosa and allied diseases: applications of electroretinographic testing

“…If the mother or daughter of an affected male shows a patch of bone spicule pigmentation in the periphery or a tapetal-like reflex in the macula and perimacula, then she would be an obligate carrier and the affected males in her family can be typed as sexlinked (20,21). However, many obligate carriers of sex-linked disease identified through pedigree studies have shown no visible fundus abnormalities (19,29,34,45,52).…”