Optical Coherence Tomography Findings in Cherry-Red Spot: Implications for Understanding Pathophysiology and Visual Prognosis.
| Autor: | Lee T, Velez FG, Galoyan N, Prasad VK, El-Dairi MA |
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| Jazyk: | angličtina |
| Zdroj: | Journal of pediatric ophthalmology and strabismus [J Pediatr Ophthalmol Strabismus] 2023 Nov-Dec; Vol. 60 (6), pp. 435-440. Date of Electronic Publication: 2023 Feb 21. |
| DOI: | 10.3928/01913913-20230123-01 |
| Abstrakt: | 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.] . |
| Databáze: | MEDLINE |
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