Abstract Details

Title Video-electrooculographic Findings in Congenital Nystagmus Associated with Oculocutaneous Albinism

Topic Neuro-ophthalmology/Neuro-otology

Presentation(s) P5 - Poster Session 5 (5:30 PM-6:30 PM)

Poster/Presentation
Number 10-001

Objective

To report electro-oculographic (EOG) findings in congenital nystagmus in an adult patient with oculocutaneous albinism (OCA).

Background Pendular nystagmus is characterized by slow sinusoidal ocular oscillations whereas jerk nystagmus has a slow phase alternating with a fast phase. Congenital pendular nystagmus is most commonly seen in infantile nystagmus syndrome (INS), which in turn is associated with oculocutaneous albinism in ~25% of cases.1

Design/Methods We report video-EOG analysis of a 62-year old woman with OCA and nystagmus present since infancy. The EOG was recorded using the standard protocol developed at our institution.2 The human eye is an electrical dipole with the cornea being positive and the retina being negative. This allows for detection of direction and position of eye movements using EOG electrodes.2

Results On examination, the nystagmus was conjugate, horizontal and pendular in primary position and in vertical end-gaze. In horizontal end-gaze, the nystagmus had a jerky quality beating toward the direction of gaze. The nystagmus diminished with convergence.

Conclusions

Nystagmus present since infancy is mainly classified into three syndromes- INS, fusional maldevelopment nystagmus syndrome and spasmus nutans.1 All three have some characteristic features. The characteristics reported in our case are most consistent with INS.

The nystagmus described in INS is mainly conjugate, horizontal and pendular in nature. The nystagmus can have jerky quality especially with end gaze where the slow phases have an increasing velocity waveform.1

Foveation periods are considered as characteristic of INS, although these can be rarely seen in acquired forms of pendular nystagmus.3-5 Foveation periods are hypothesized to explain the absence of oscillopsia in INS.1

Authors/Disclosures
Abdalmalik Bin Khunayfir, MD (Piedmont Healthcare) PRESENTER	Dr. Bin Khunayfir has nothing to disclose.
Malak Alaboudi, MD	Dr. Alaboudi has nothing to disclose.
Neel Fotedar, MD (University Hospitals Cleveland Medical Center)	Dr. Fotedar has received research support from NINDS.

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