Journal of pediatric ophthalmology and strabismus · 2026
Retinal Screening for Risdiplam-Related Toxicity in Infants With Presymptomatic Spinal Muscular Atrophy: Evidence for Transient Cystoid Macular Edema as a Possible Developmental Variant.
СтатьяНаблюдательное исследованиеНазвание и аннотация: Перевод в очереди
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Waldie Anna, Kennedy Morgan, Tan Kimberley
Аннотация
PURPOSE: To describe the presence and clinical course of cystoid macular edema (CME) in term infants with genetically confirmed presymptomatic spinal muscular atrophy (SMA) undergoing ophthalmologic monitoring for potential risdiplam-related retinal toxicity.
METHODS: A retrospective observational case series was conducted at Sydney Children's Hospital, a participating site in a trial for risdiplam. Eight term infants underwent serial handheld spectral-domain optical coherence tomography (OCT) between 3 and 28 weeks of age. OCT images were reviewed for signs of retinal toxicity and morphological changes.
RESULTS: CME was observed in 2 of 8 infants (25%), one of whom had not yet initiated risdiplam therapy. In both cases, intraretinal cysts were bilateral, symmetrical, confined to the inner nuclear layer, and resolved spontaneously by 4 to 5 months of age. No subretinal fluid or other structural abnormalities were observed. These findings were not associated with visual symptoms or adverse outcomes.
CONCLUSIONS: The spontaneous resolution and confinement of cystic changes to the inner retina in these infants suggest a benign, self-limiting process potentially unrelated to risdiplam. However, the small sample size and absence of a comparison group mean the data are insufficient to determine whether these changes are physiologic, associated with SMA, or treatment related. These findings highlight the need for normative neonatal OCT data to guide interpretation of early retinal findings and support the cautious hypothesis that inner retinal cystic changes may represent a physiologic stage of postnatal development.
METHODS: A retrospective observational case series was conducted at Sydney Children's Hospital, a participating site in a trial for risdiplam. Eight term infants underwent serial handheld spectral-domain optical coherence tomography (OCT) between 3 and 28 weeks of age. OCT images were reviewed for signs of retinal toxicity and morphological changes.
RESULTS: CME was observed in 2 of 8 infants (25%), one of whom had not yet initiated risdiplam therapy. In both cases, intraretinal cysts were bilateral, symmetrical, confined to the inner nuclear layer, and resolved spontaneously by 4 to 5 months of age. No subretinal fluid or other structural abnormalities were observed. These findings were not associated with visual symptoms or adverse outcomes.
CONCLUSIONS: The spontaneous resolution and confinement of cystic changes to the inner retina in these infants suggest a benign, self-limiting process potentially unrelated to risdiplam. However, the small sample size and absence of a comparison group mean the data are insufficient to determine whether these changes are physiologic, associated with SMA, or treatment related. These findings highlight the need for normative neonatal OCT data to guide interpretation of early retinal findings and support the cautious hypothesis that inner retinal cystic changes may represent a physiologic stage of postnatal development.