Leukocoria in a 4-year-old boy
Year: 2024
Type: article
Study design: Case Report
Abstract: A healthy 4-year-old boy referred for evaluation of an abnormal red reflex in the left eye was noted, on fundus examination, to have extensive white, striated lesions surrounding the optic nerve that involved the superior and inferior macular arcades. On further examination, he was found to have ipsilateral high myopia and amblyopia. The triad of unilateral myelinated retinal nerve fibers, myopia, and amblyopia led to a diagnosis of Straatsma syndrome, which requires early treatment to prevent permanent vision loss. Treatment comprised a contact lens for refractive correction of the left eye, patching of the right eye, and full-time polycarbonate protective lenses. With 2 years' follow-up, the left eye failed to improve appreciably.
Source: Digital Journal of Ophthalmology
Institutions: Boston Children's Hospital, Harvard University
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4399429588