Five new cases and 30 others from the literature were characterized by the clinical triad of progressive external ophthalmoplegia, atypical pigmentary degeneration of the retina, and heart block. The syndrome is sporactic, not hereditary, and begins by the age of 20 years. In many cases there is other evidence of widespread neurological disorder, implicating specific areas: cerebellum; auditory and vestibular systems; skeletal muscle; and, less often, intellectual function or corticospinal tracts. Short stature and delayed sexual maturation are also frequent. The CSF protein content is almost always greater than 100 mgidl. Spongioform encephalopathy was found in 4 postmortem examinations. In all cases so examined, muscle mitochondria were abnormal.The constancy of these manifestations suggests that the disorder is a true entity, not an artificial subclass of the large group of disorders associated with ophthalmoplegia. Several characteristics suggest that the disorder of neuronal and muscle metabolism is induced by persistent viral infection.

The relationship between a structure (OCT RNFL thickness) and function (SAP sensitivity loss) is the same for patients with AION and glaucoma and can be approximated by a simple linear model. The model may provide a framework for identifying those patients with ganglion cell axons that are malfunctioning but are alive.

Purpose-To compare conventional visual evoked potential (cVEP) and multifocal visual evoked potential (mfVEP) methods in patients with optic neuritis/multiple sclerosis (ON/MS).Methods-mfVEPs and cVEPs were obtained from eyes of the 19 patients with multiple sclerosis confirmed on MRI scans, and from eyes of 40 normal controls. For the mfVEP, the display was a pattern-reversal dartboard array, 48° in diameter, which contained 60 sectors. Monocular cVEPs were obtained using a checkerboard stimulus with check sizes of 15′ and 60′. For the cVEP, the latency of P100 for both check sizes were measured, while for the mfVEP, the mean latency, percent of locations with abnormal latency, and clusters of contiguous abnormal locations were obtained.Results-For a specificity of 95%, the mfVEP(interocular cluster criterion) showed the highest sensitivity (89.5%) of the 5 monocular or interocular tests. Similarly, when a combined monocular/ © Springer-Verlag 2008Correspondence to: Donald C. Hood, dch3@columbia.edu. NIH-PA Author Manuscript NIH-PA Author Manuscript NIH-PA Author Manuscript interocular criterion was employed, the mfVEP(cluster criterion) had the highest sensitivity (94.7%)/ specificity (90%), missing only one patient. The combined monocular/interocular cVEP(60′) test had a sensitivity (84.2%)/specificity (90%), missing 3 patients, 2 more than did the monocular/interocular mfVEP(cluster) test. NIH Public AccessConclusion-As the cVEP is more readily available and currently a shorter test, it should be used to screen patients for ON/MS with mfVEP testing added when the cVEP test is negative and the damage is local.

A substantial percentage of ON/MS patients show a long-term improvement in conduction velocity. Because this improvement can be local, the mfVEP should allow these improvements to be monitored in patients with ON/MS.