Chronic progressive external ophthalmoplegia and pigmentary degeneration of the retina.

The rare association of external ophthalmoplegia and ptosis with pigmentary degeneration of the retina was first described by Barnard and Scholz (I954) in a report of four cases. The subsequent literature was reviewed by Davidson (i960), 'who found that only eighteen cases had been described, and added one further case. Within this series he was able to define a relatively homogenous group of twelve cases. They manifested a syndrome characteristically occurring in females with the onset of ptosis in childhood and of external ophthalmoplegia in adolescence or early adult life. The pupils were normal and an atypical retinitis pigmentosa was present with normal retinal vessels and optic discs. The visual fields were variable showing either no defect, peripheral contraction, or the characteristic annular scotoma of retinitis pigmentosa. The present communication reports two further cases of this rare syndrome and reviews the relevant literature subsequent to I960. Serum enzyme studies in eleven other patients with progressive external ophthalmoplegia unassociated with pigmentary degeneration of the retina are also reported and the findings discussed.