Abstract Details

Title Looking “cherry red spot myoclonus” in the eyes

Topic Neuro-ophthalmology/Neuro-otology

Presentation(s) P9 - Poster Session 9 (12:00 PM-1:00 PM)

Poster/Presentation
Number 5-012

Objective To describe eye movements in a cohort of patients affected with Sialidosis type 1 (Cherry Red Spot-Myoclonus Syndrome).

Background Sialidosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in NEU1, which encodes for neuraminidase 1. Sialidosis Type-1 usually presents in the second to third decade and is characterized by cortical myoclonus, seizures, ataxia, vision loss and the characteristic “cherry red spot macula”. A variety of eye movement abnormalities have been reported in patients with Sialidosis type-2, a severe earlier onset disease with additional skeletal deformities and dysmorphic features. Detailed eye movement analysis in Sialidosis type 1 has not been reported.

Design/Methods We characterized eye movement features of three patients with molecularly confirmed Sialidosis type-1, clinically and with video-oculography (VOG) (EyeLink 1000+).

Results Case 1 is a 19 y.o. woman with lower limb myoclonus, dysmetria, and psychiatric features. Eye movement exam showed square wave jerks, macrosaccadic oscillations, saccadic pursuit and ocular dysmetria. VOG revealed marked difficulty with target following due to excess saccadic intrusions and oscillations, dynamic overshoots of saccades, saccadic hypermetria, and double saccadic pulses. Case 2 is a 40 y.o. man with significant upper limb myoclonus and subtle downbeat and gaze-evoked nystagmus, saccadic hypermetria, abnormal trajectory of vertical saccades, and saccadic pursuit. Case 3 is a 31 y.o. man with ataxia, upper limb myoclonus, and distal lower limb neuropathy. Eye movement exam and VOG showed hypometric saccades and saccadic pursuit, as well as mild right sixth nerve dysfunction and convergence insufficiency. All patients had vision loss and a cherry red spot macula.

Conclusions Patients with Sialidosis type-1 manifest eye movements abnormalities which appear to localize to the cerebellum. These findings provide additional evidence of a cerebellar contribution to the complex symptomatology of this disorder and could serve as a biomarker to be used in the setting of future therapeutic interventions.

Authors/Disclosures
Giulietta Riboldi, MD (New York University) PRESENTER	The institution of Dr. Riboldi has received research support from Prevail Therapeutics.
	No disclosure on file
	No disclosure on file
	No disclosure on file
Camilo Toro, MD, F�鶹��ýӳ�� (NIH)	Dr. Toro has received personal compensation in the range of $100,000-$499,999 for serving as a TORO with NIH/IRP.
Steven Frucht, MD (New York University Medical Center)	Dr. Frucht has nothing to disclose.
Janet C. Rucker, MD	Dr. Rucker has nothing to disclose.

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