Ocular sequalae of spinal muscular atrophy
Reviewed by Ian Reekie

The authors present a retrospective single-centre cohort study of patients with spinal muscular atrophy – a neurodegenerative disorder presenting between infancy and early adulthood. Forty-eight patients were included in total, with roughly equal numbers of types 1, 2 and 3 spinal muscular atrophy. Patients with other known ocular co-morbidities were excluded. Significantly more of type 1 patients were hypermetropic and type 2 were myopic, when compared to the other groups. It is possible that this is due to the older age at time of assessment of the type 2 cohort compared to type 1, but this would not explain the lower frequency of myopia amongst type 3 spinal muscular atrophy patients, who were older at time of assessment than the type 2 cohort. Nearly 17% of the type 1 patients also had optic atrophy compared to none of the other groups, though small sample size prevented statistical assessment of this. Patients who were ventilated at the time of examination were excluded from this study, which likely removes the most severe phenotypes of spinal muscular atrophy and may skew the results. This work provides important information on ophthalmic considerations for patients with spinal muscular atrophy. Historically patients with type 1 and type 2 spinal muscular atrophy had extremely reduced life expectancy, but recent therapeutic breakthroughs mean that many more patients live into later childhood and adulthood. This will have a knock-on effect for quality-of-life expectations, including preserving good vison.

Refractive errors, strabismus and ocular findings in children with different types of spinal muscular atrophy. 
Kılıçarslan O, Yılmaz Çebi A, Yıldırım R. 
OPHTHALMIC GENETICS 
2025;46(5):435–9.
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