Recessive sex-linked inheritance of external ophthalmoplegia and myopia coincident with other dysplasias.

D1IFER.ENT aluthors have reported several cases of congenital extern-al ophtlhcllmioplegia, some of which were myopic. No one, how everl, hlas l)aid special attention to tlis occurrence. Familial externial ophtlhalmiioplegila has been reported as inherited in two forms: dominiianlt and recessive. The fact thalt all our cases witll oplhtllmllrnoplegia w-ere myopic, the spet itil form of transmission of the pathological gene, and the presence of a numtbtler of stigmata in the affected subjects and in the carriers of the j)athologi(al gene, are the most interestinig feattures of our conmiimunication. The ophthalmological picture of our four patients is strikingly similar in all (Fig. 1). They present the following characteristics (1) Complete bilateral ptosis. (2) Almost complete, or complete, bilateral external ophthalmoplegia.' Slight lateral movements are obtainable in some of them, but they are scarce and do not reach 20°. (3) Divergent squint is present in three cases (III, 4; III, 6; IV, 5), and convergent squint in the other (IV, 6). (4) The pupils are eccentric, dyscoric, and anisocoric. The light reflex is normal in seven eyes and absent in the eighth. The accommodative reflex is very difficult to obtain because of the lack of convergence and the existence of high myopia. (5) Myopia of high degree in the three older patients and of slightl degree in the youngest; fairly good visual acuity without glasses (because of the stenopeic slit produced by the ptosis) only X ery slightly improved by their use. (6) Myopic fundus alterations (staphvlomata and Foerster-Ftuchs macular spot). Of the living male subjeects, onlyonle (IV, 3) has normal eyes (Fig. la) two other FIG (a). IV 3. Normal male. afflicted males died, one in early childhood (IV, 7), the other at the age of 46 years. (Generation II). The genealogical tree (Fig. 2, p. 664) shows that most of the men are phenotypically affected, and that all the women are phenotypically