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- Title
Optical Coherence Tomography Findings in Cherry-Red Spot: Implications for Understanding Pathophysiology and Visual Prognosis.
- Authors
Lee, Terry; Velez, Federico G.; Galoyan, Nelli; Prasad, Vinod K.; El-Dairi, Mays A.
- Abstract
Purpose: To report optical coherence tomography (OCT) findings of cherry-red spots from Tay-Sachs and Niemann-Pick disease. Methods: Consecutive patients with Tay-Sachs and Niemann-Pick disease evaluated by the pediatric transplant and cellular therapy team, for whom a handheld OCT scan was obtained, were included. Demographic information, clinical history, fundus photography, and OCT scans were reviewed. Two masked graders evaluated each of the scans. Results: The study included 3 patients with Tay-Sachs disease (5, 8, and 14 months old) and 1 patient with Niemann-Pick disease (12 months old). All patients had bilateral cherry-red spots on fundus examination. In all patients with Tay-Sachs disease, handheld OCT revealed parafoveal ganglion cell layer (GCL) thickening, increased nerve fiber layer, and GCL reflectivity, and different levels of residual normal signal GCL. The patient with Niemann-Pick disease had similar parafoveal findings, but there was a thicker residual GCL. Sedated visual evoked potentials were unrecordable in all 4 patients despite 3 of them demonstrating normal visual behavior for age. Patients with good vision had relative sparing of the GCL on OCT. Conclusions: The cherry-red spots in lysosomal storage diseases appear as perifoveal thickening and hyperreflectivity of the GCL on OCT. In this case series, residual GCL with normal signal proved to be a better biomarker for visual function than visual evoked potentials and could be considered for future therapeutic trials. [J Pediatr Ophthalmol Strabismus. 2023;60(6):435–440.]
- Subjects
OPTICAL coherence tomography; LYSOSOMAL storage diseases; VISUAL evoked potentials; NIEMANN-Pick diseases; PATHOLOGICAL physiology; GLYCOGEN storage disease type II
- Publication
Journal of Pediatric Ophthalmology & Strabismus, 2023, Vol 60, Issue 6, p435
- ISSN
0191-3913
- Publication type
Article
- DOI
10.3928/01913913-20230123-01