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

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.