Abstract Details

Title Optic Neuropathy in Atypical Chediak-Higashi Syndrome with a Neurodegenerative Phenotype

Topic Neuro-ophthalmology/Neuro-otology

Presentation(s) P02 - (-)

Poster/Presentation
Number 253

Objective

Background BACKGROUND: Mutations in the LYST gene, the protein product of which controls lysosomal exocytosis, cause CHS. The typical phenotype is characterized by childhood immunological and hemophagocytic dysfunction. Rarely, a progressive neurodegenerative disorder follows the childhood illness, but adult onset neurodegenerative disease in the absence of childhood disease is reported. Visual disturbances have not been well characterized, with one short report suggesting retinal dysfunction.

Design/Methods DESIGN/METHODS: Three siblings (40 yo woman - patient 1, 38 yo man - patient 2, 32 yo man - patient 3) with genetically-confirmed CHS and adult-onset neurological disease underwent neuro-ophthalmological exam and electrophysiology.

Results RESULTS: Patient 1 had progressive cognitive decline and parkinsonism with abnormal hypopigmented skin patches; patient 2 had cognitive decline and parkinsonism; and patient 3 had a history of a spinal arteriovenous malformation. None reported vision loss. Acuity was normal in all, with exception of 20/40 OS in patient 2. Color vision was reduced in patient 1 (control only OD, 2/14 OS Ishihara plates) -normal in patients 2 and 3. Contrast sensitivity was reduced in all 3 patients. Patient 1 had severe optic nerve pallor, patient 2 mild pallor, and patient 3 had normal optic discs. All had normal retinae. Goldmann fields revealed central loss in all 3, with additional peripheral constriction in patient 2. Nerve fiber layer thinning by OCT was present in patients 1 and 2. Macular OCT revealed an usual 'third line' of unclear significance between the ellipsoid and RPE lines in all 3 patients. In patients 1 and 3, electroretinogram was normal and visual evoked potentials revealed delayed P100.

Conclusions CONCLUSIONS: Despite the lack of subjective vision loss in 3 siblings with late-onset neurodegenerative CHS, all had evidence of optic nerve involvement as the primary cause of contrast sensitivity and visual field loss.

Authors/Disclosures
Janet C. Rucker, MD PRESENTER	Dr. Rucker has nothing to disclose.
Catherine Cho, MD (NYU Langone Medical Center)	Dr. Cho has nothing to disclose.
	No disclosure on file
	No disclosure on file
Lisa M. DeAngelis, MD, FAAN	Dr. DeAngelis has received publishing royalties from a publication relating to health care.

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