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Retinal Screening for Risdiplam-Related Toxicity in Infants With Presymptomatic Spinal Muscular Atrophy: Evidence for

Anna Waldie1, Morgan Kennedy2, Kimberley Tan3

  • 1Ophthalmology Registrar, Sydney Children's Hospital, The University of Sydney, Sydney, Australia.

Journal of Pediatric Ophthalmology and Strabismus
|March 6, 2026
PubMed

Insights

Cystoid macular edema (CME) was observed in 25% of infants with spinal muscular atrophy (SMA). These retinal changes resolved spontaneously and may represent a normal developmental stage in infants.

Area of Science:

  • Ophthalmology
  • Neonatology
  • Genetics

Background:

  • Spinal muscular atrophy (SMA) is a genetic neuromuscular disease.
  • Ophthalmologic monitoring is crucial for infants with SMA, especially those receiving risdiplam therapy.
  • Potential retinal toxicity from risdiplam necessitates careful observation.

Purpose of the Study:

  • To describe the occurrence and clinical course of cystoid macular edema (CME) in term infants with genetically confirmed presymptomatic spinal muscular atrophy (SMA).
  • To evaluate potential risdiplam-related retinal toxicity through ophthalmologic monitoring.
  • To characterize macular changes in infants with SMA using optical coherence tomography (OCT).

Main Methods:

  • A retrospective observational case series was conducted.
  • Eight term infants with presymptomatic SMA were included.
  • Serial handheld spectral-domain optical coherence tomography (OCT) was performed between 3 and 28 weeks of age.

Main Results:

  • Cystoid macular edema (CME) was detected in 2 of 8 infants (25%).
  • Intraretinal cysts were bilateral, symmetrical, confined to the inner nuclear layer, and resolved spontaneously by 4-5 months.
  • No subretinal fluid or other structural abnormalities were noted, and findings were not associated with visual symptoms.

Conclusions:

  • The observed retinal changes appear to be a benign, self-limiting process.
  • The findings suggest that inner retinal cystic changes might represent a physiologic stage of postnatal development.
  • Further research with normative neonatal OCT data is needed to definitively determine the cause of these retinal changes.
Abstract

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