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Ophthalmic features of Lamb-Shaffer syndrome: a case series
Yoav Glidai1, Moe H Aung2, Jane Edmond2
1Northwell, New Hyde Park, New York; Cohen Children's Medical Center, Queens, New York.
Insights
Lamb-Shaffer syndrome (LSS), a rare neurodevelopmental disorder, frequently causes vision problems in children. This study details ophthalmic findings in 6 LSS patients, highlighting common issues like strabismus and refractive errors.
Area of Science:
- Ophthalmology
- Genetics
- Pediatric Neurology
Background:
- Lamb-Shaffer syndrome (LSS) is a rare genetic neurodevelopmental disorder.
- Fewer than 100 individuals are diagnosed with LSS globally.
- Understanding LSS's full clinical spectrum is crucial for patient management.
Observation:
- A case series of 6 pediatric patients with genetically diagnosed LSS was analyzed.
- Ophthalmic examinations were conducted to identify visual system abnormalities.
- The study focused on documenting the range and frequency of eye conditions in LSS.
Findings:
- Strabismus, particularly exotropia, was observed in 5 out of 6 patients.
- All patients exhibited significant refractive errors, with 5 having astigmatism ≥2 D.
- Optic nerve abnormalities (pallor, hypoplasia, anomalous appearance) were present in all patients.
Implications:
- Ophthalmic assessment is essential for early diagnosis and management of LSS.
- The findings expand the known clinical features of Lamb-Shaffer syndrome.
- This research aids in developing targeted interventions for visual impairments in LSS patients.
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).
