In a communication on the subject of the condition of the fundus oculi in insane individuals,* undertaken in conjunction with my friend Mr. Bickerton, we described the optic disc changes met with in a series of 66 cases of general paralysis. We showed that whilst in the majority of cases of this disease the fundus oculi presented a normal appearance, in a considerable minority changes in the direction of neuritis or atrophy were to be found, and that whilst optic atrophy was noted as a sequel of neuritis, it was also not unfrequently primary at the disc. In all the cases observed by us, however, the changes in the optic discs had developed after the mental symptoms had become apparent, although we quoted from Nettleship† a case in which optic nerve atrophy preceded the symptoms of this disease. Such cases as this latter are, in my experience, decidedly rare, and hence the following appears worthy of being placed on record:—
Interstitial 12p deletion involving more than 40 genes in a patient with postnatal microcephaly, psychomotor delay, optic nerve atrophy, and facial dysmorphism