Optical Coherence Tomography Findings in Cherry-Red Spot: Implications for Understanding Pathophysiology and Visual Prognosis

J Pediatr Ophthalmol Strabismus. 2023 Nov-Dec;60(6):435-440. doi: 10.3928/01913913-20230123-01. Epub 2023 Feb 21.

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.].

MeSH terms

  • Child
  • Evoked Potentials, Visual
  • Humans
  • Infant
  • Niemann-Pick Diseases*
  • Prognosis
  • Tay-Sachs Disease*
  • Tomography, Optical Coherence