See-saw nystagmus and congenital nystagmus identified in the non-decussating retinal-fugal fiber syndrome.
OBJECTIVE
The purpose of the present study was to accurately document the oculomotor misalignments and instabilities associated with the non-decussating retinal-fugal fiber syndrome, a rare inborn, isolated, achiasmatic condition. To date, the achiasmatic syndrome described has thus far been identified in three unrelated females. A comparable achiasmatic condition has also been identified in a canine breed.


METHODS
The unique, inborn visual pathway malformation in the form of an isolated absence of the optic chiasm was confirmed by metabolic assay, the visual evoked potential (VEP) misrouting paradigm and neuroradiological evaluation, including magnetic resonance imaging (MRI). Horizontal and vertical, left and right eye, oculomotor scleral search coil recordings were measured, in one of the achiasmats, at 15 years of age. Comparable oculomotor recordings were implemented in three controls, including a normal age-matched control, an adult control and an adult with idiopathic congenital nystagmus (CN). In addition to central and eccentric target fixation with binocular and monocular viewing, binocular and monocular pursuit and optokinetic nystagmus (OKN) also were recorded.


RESULTS
Following a binocular and monocular fixation paradigm, classic congenital nystagmus (CN) profiles were recorded in the achiasmat in the horizontal planes together with see-saw nystagmus (SSN) in the vertical planes; an alternating esotropia and vertical tropias also were documented. The CN showed interocular conjugacy and waveforms typically exhibited well-defined foveation periods. In general, both achiasmatic horizontal and vertical eye movements as well as corresponding interocular misalignments varied with stimu-lus and recording conditions. Moreover, horizontal eye movements showed sustained interocular conjugacy while vertical eye movements typically showed disconjugacy. Previous oculomotor studies in the achiasmatic canine breed revealed comparable oculomotor instabilities, albeit the latter were reported to present primarily with unyoked eye movements and uniocular saccades. In the present study, in addition to target fixation with binocular and monocular viewing, binocular and monocular pursuit and OKN responses also were recorded. For the achiasmat, high-gain pursuit results, as with eccentric fixation, emphasized a preference for fixation with the adducting eye. Also at eccentric gaze with monocular viewing, the eye under cover showed, relative to the fixating eye, a hypodeviation concomitant with adduction and a hyperdeviation concomitant with abduction. OKN profiles in the achiasmat with stimuli presented under both normal viewing and open-loop, retinal-field locked conditions proved rather complex; however, when an OKN response was identified, reversed OKN tracking was not apparent.


CONCLUSIONS
In general, the oculomotor results reported herein demonstrate that the non-decussating retinal-fugal fiber syndrome is an afferent visual pathway disorder associated with vertical and horizontal misalignments concurrent with congenital nystagmus and also with the rarer see-saw nystagmus.
Apkarian
P
P
Department of Neurology & Clinical Neurophysiology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Bour
L J
LJ
D000293:Adolescent; D000328:Adult; D004584:Electronystagmography; D005074:Evoked Potentials, Visual; D005124:Eye Abnormalities / Q000175:diagnosis*; D005133:Eye Movements; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009412:Nerve Fibers / Q000473:pathology; D020417:Nystagmus, Congenital / Q000175:diagnosis*; D009759:Nystagmus, Pathologic / Q000175:diagnosis*; D009897:Optic Chiasm / Q000002:abnormalities*; D012165:Retinal Ganglion Cells / Q000473:pathology; D013577:Syndrome; D015348:Vision, Binocular; D014794:Visual Fields; D014795:Visual Pathways / Q000002:abnormalities*