Ophthalmic features of Lamb-Shaffer syndrome: a case series

Yoav Glidai; Moe H Aung; Jane Edmond; Linda Lawrence; G Vike Vicente; Sylvia R Kodsi

doi:10.1016/j.jaapos.2024.103919

Ophthalmic features of Lamb-Shaffer syndrome: a case series

J AAPOS. 2024 Apr 16:103919. doi: 10.1016/j.jaapos.2024.103919. Online ahead of print.

Authors

Yoav Glidai¹, Moe H Aung², Jane Edmond², Linda Lawrence³, G Vike Vicente⁴, Sylvia R Kodsi⁵

Affiliations

¹ Northwell, New Hyde Park, New York; Cohen Children's Medical Center, Queens, New York. Electronic address: yglidai@northwell.edu.
² Department of Ophthalmology, Dell Medical School, The University of Texas at Austin, Austin, Texas.
³ Private practice, Salina, Kansas.
⁴ Eye Doctors of Washington, Chevy Chase, Maryland.
⁵ Northwell, New Hyde Park, New York; Cohen Children's Medical Center, Queens, New York.

PMID: 38631482
DOI: 10.1016/j.jaapos.2024.103919

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).

Publication types

Case Reports