A case of complete absence of the visual system in an adult. By William G. Spiller, MD, Assistant Clinical Professor of Nervous Diseases and Assistant Professor of Neuropathology in the University of Pennsylvania; Clinical Professor of Nervous Diseases in the Women's Medical College of Pennsylvania. [From the William Pepper Laboratory of Clinical Medicine (Phoebe A Hearst Foundation)] Brain 1901: 24;

Abstract

Dr Spiller argues that in studying the complete absence of the visual system in an adult, the potential confounding effect of imperfect development affecting other parts of the nervous system present in ‘agenesia of the visual system in a newborn child’ are avoided. Born in 1878, T.S. is admitted to the Pennsylvania Training School for Feeble-minded Children in March 1895. ‘He was an idiot, absolutely helpless, and very unclean … [but] he was passionately fond of music’. Dr Spiller’s initial diagnosis is cerebral spastic paraplegia of the lower limbs, with absence of the eyeballs. T.S. weighs 38 pounds and is 3 ft 7 in. tall. Unable to support his own weight, T.S. can be helped to take a few ‘scissored’ steps. He mutters monosyllables and can only say ‘mamma’. The palpebral fissures are small. Despite being aged 22 years, T.S. is prepubertal and has the physical appearance of a child. He remains institutionalized for the rest of his life, dying on 2 March 1900. Autopsy is performed 2 days later (Fig. 1 ). Figure 1 A photograph of T.S. taken after death. The right upper limb, the fingers of both hands and the lower limbs are slightly contractured. The palpebral fissures are small. There are flexion contractures of the arms and legs. Each orbit contains a small amount of fibrous connective tissue but nothing resembling an eyeball is present. There are no optic foramina, merely imperforate depressions in the skull at the expected place. No trace of the optic nerves, chiasm or tracts can be found. Nor is there any sign of an external geniculate body on either side (Figs 2 and 3). The brain is small and firm with selective atrophy of the left ascending frontal convolution. The occipital lobes are also small with a short calcarine fissure. These are the …