AI Article Synopsis
- Lamb-Shaffer syndrome (LSS) is a rare genetic neurodevelopmental disorder affecting fewer than 100 people globally, specifically characterized by diverse ophthalmic issues.
- In a study of 6 pediatric patients with LSS, strabismus was found in 5, with exotropia being the most common type, and all patients exhibited significant refractive errors, particularly astigmatism.
- Notable eye-related complications included various optic nerve abnormalities, such as pallor and hypoplasia, along with other issues like ptosis and nystagmus in some patients.
Article Abstract
Lamb-Shaffer syndrome (LSS) is a rare neurodevelopmental disorder, genetically diagnosed in fewer than 100 individuals worldwide. We present a case series of 6 pediatric patients with LSS and describe its ophthalmic manifestations. Strabismus was present in 5 patients, with exotropia being most common. All subjects had significant refractive errors; 5 had astigmatism of at least 2 D. All patients had optic nerve abnormalities, including pallor (4), hypoplasia (2), and anomalous appearance (1), with retinal nerve fiber layer thinning demonstrated in a single subject. Other ophthalmic disorders detected were ptosis (1), nasolacrimal duct obstruction (1), and nystagmus (2).
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| http://dx.doi.org/10.1016/j.jaapos.2024.103919 | DOI Listing |
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